Prenatal Development Study Guide PDF

DEVELOPMENTA L CHALLENGES: HUMAN DEVELOPMENT INTRODUCTION OF EARLY DEVELOPMENT CONCEPTION Ovaries of females contain precursors of all ova they will ever produce Immature ova are called oocytes Testes of males produce new sperm continually Sperm and ova are called germ...

DEVELOPMENTA L CHALLENGES: HUMAN DEVELOPMENT INTRODUCTION OF EARLY DEVELOPMENT CONCEPTION Ovaries of females contain precursors of all ova they will ever produce Immature ova are called oocytes Testes of males produce new sperm continually Sperm and ova are called germ cells Mature sperm and ova are called gametes Sperm and ova contain 23 chromosomes each– half of the chromosomes necessary (23 pairs or 46 chromosomes) Sperm cells have half X and half Y sex chromosomes whereas all ova have one X sex chromosome. ( 2 X = ZYGOTIC PERIOD – REVIEW Once fertilization has occurred and the ova and the sperm cell have contributed their 23 chromosomes each it is known as a zygote. Zygotes undergo a two week rapid cell division, a process known as mitosis. This two week period is known as zygotic or germinal phase and it covers from conception to implantation of the embryo into the EMBRYONIC AND FETAL PERIODS - REVIEW Embryonic stage is from two weeks to 8 weeks. Fetus refers the time from the end of the 8th week until birth. IMPORTANT PROCESSES IN PRENATAL DEVELOPMENT The DNA – and genes that are sections of DNA- contain chromosomes inherited from both parents and help determine how humans develop. Epigenetic mechanisms do not change the sequence of the building blocks in DNA but can turn on and off certain genes. CELLULAR DIFFERENTIATION Zygotic stage – cells have potential to develop into many different cell types and are referred to pluripotent cells Epigeneticmechanisms remove or inactivate methyl groups on DNA during the zygotic stage During cell division the daughter cells become more and more specialized Specialized cells make different types of proteins causing cells in different tissues to have different shapes, membranes, structures and functions. CHROMOSOME INACTIVATIO NEpigenetic process called X-Chromosome inactivation or lyonization Early stage development one or the other of the X chromosomes in cells of females become inactivated so they do not have twice as many X chromosomes as males X-linked conditions such as Duchenne muscular dystrophy and Fragile X Femaleswere once thought not to be at risk of developing GENOMIC IMPRINTING Epigenetic process called Genomic imprinting Genes can occur in alternative forms known as alleles Alleles inherited from both the mother and the father are expressed Chromosomes that are subject to genomic imprinting this is not the case. So genes on the maternal allele are expressed because the male allele is imprinted and turned off and vice versa Interference with genomic imprinting METABOLIC PROGRAMMING Environmental factors in early development can affect health in adulthood Example: Inadequate nutrition prior to conception could result in a child that experiences high blood pressure, heart disease, or diabetes in later life. Epigenetic process are believed to be involved in this physiological process, but research is still in its infancy  PERINATAL PROGRAMMING Metabolic programming or Perinatal programming explore the idea that environmental factors thought to change the way the infant’s brain genes express themselves, the way an infant develops, and may result in neurodevelopmental disorders such as: How mothers, fathers, and others interact with an infant Bacterial and viral infections Nutritional deficiencies after birth Ex. A mother that has the flu during pregnancy is thought to increase risk of schizophrenia and autism in offspring. (Theory) In animal studies, it is believed that the chemical oxytocin is responsible for positive maternal behavior and triggers the production of proteins called growth factors preventing certain  TERATOGENS Teratogens are factors that interfere with normal embryonic and fetal differentiation e.g. certain medications, environmental factors etc. Exert their effects via epigenetic mechanisms Table 9.2, p. 117 gives a list of potential teratogens Examples of some of the effects are: Cleft lip/palate, anencephaly ( neural tube defect whereby a large part of the brain and skull are missing), ventricular septal defects (whole in the heart at birth), and developmental disability Fetal death, prematurity, growth retardation, and unexplained structural abnormalities suggest teratogenic effects Disorders from teratogens can be prevented through community education TERATOGENS CONT’D Four factors in teratogenicity are: 1. Embryo/fetus age, or gestational age at the time of the exposure 2. Dosage of the teratogen 3. Fetal genotype which may make the fetus more or less vulnerable to the teratogen 4. Maternal genotype; pregnant women differ in their ability to detoxify teratogens COMPLICATIONS OF PREGNANCY Most common complications: Ectopic pregnancy – pregnancy that is not in the uterus Rh Negative Disease – mother has Rh Negative blood father has Rh positive Group B streptococcus infection – present in the gastrointestinal tract can be passed onto infant Preterm Labor Low gestational birth weight COMPLICATIONS OF LABOR AND DELIVERY Complications can deprive the infant of oxygen or increase the risk of acquiring an infection and result is developmental delay, intellectual disability and/or physical disabilities Complications include: Premature labor and premature delivery Labor that lasts too long Abnormal presentation of the infant in the birth control Premature rupture of the membranes around the infant Umbilical prolapse (Umbilical cord precedes the infant into the birth canal) COMPLICATIONS ASSOCIATED WITH PREMATURE BIRTH Born before the 37th week of gestation considered to be premature Complications associated: Immature lungs Increased risk of acquiring pneumonia Other infections Jaundice Intraventricular hemorrhage (hemorrhage into the ventricles of the brain) Inability to maintain body temperature Immature digestive tracks PRENATAL DETECTION OF DEVELOPMENTAL DISABILITIES Ultrasound Scans Maternal Serum Screening Amniocentesis Chorionic villus sampling (CVS) Percutaneous umbilical blood Sampling (PUBS) ULTRASOUND SCANS Determine an accurate gestational age Picks up certain types of physical abnormalities Detects twins, triplets and more infants Used at early and vulnerable stages of development Ultrasound during pregnancy is generally considered to be safe MATERNAL SERUM SCREENING Completed using a blood sample from a pregnant woman at 15-17 weeks of gestation Determines the risk that the woman may be carrying a fetus with Down syndrome or Spina Bifida Has been associated with False positive and false negative results AMNIOCENTESIS Analysis of the fluid and or fetal cells gathered from the wombs amniotic fluid Usually performed in the second trimester (15 -18 weeks from gestation) It can be performed as early as the 12th week When performed before the 14th week it is associated with the risk of miscarriage (0.25% - 0.5%) Takes approximately two weeks to obtain results Can detect extra or missing chromosomes or structurally altered chromosomes. CHORIONIC VILLUS SAMPLING Performed between the 10th and 12th week of pregnancy Analysis of cells from the placenta Analysis for the presence of particular proteins, the presence of extra chromosomes or structurally altered chromosomes, and altered levels of a particular enzyme resulting in a particular disorder. The risk of miscarriage associated with CVS is slightly higher (0.5% - 1%) Has been associated with limb defects in infants PERCUTANEOUS UMBILICAL BLOOD SAMPLING Analysis from blood from the umbilical cord Analysis of particular proteins, presence of extra or missing chromosomes or structurally altered chromosomes, and reduced levels of a particular enzyme that results in a particular disorder Done at 18 weeks of pregnancy or later Cannot detect Neural Tube defects Can detect chromosomal abnormalities, hemophilia, and anemia, and some metabolic disorders, infections such as toxoplasmosis and rubella Results are usually within 72 hours Can be used to give blood transfusions to the fetus, and administer medication directly Considered to be safe though invasive Miscarriage rate associated with PUBS 1-2% PREVENTION, INTERVENTION, AND CURE Genetic Counselling Fetal Surgery Gene Therapy Cloning Stem Cells INTRODUCTION TO GENETICS, GENOMICS, EPIGENETICS AND INTELLECTUAL AND DEVELOPMENTAL DISABILITIES CHAPTE R 10 WHY LEARN ABOUT THIS? 1. Explain why we are the way we are 2. Demonstrates non-modifiable things in the context of modifiable (ie diet, exercise, lifestyle) 3. Massive shift in medicine as a result of our understanding 4. Beneficial to everyone, especially those with DID. BASICS OF HUMAN GENETICS FUNDAMENTAL COMPONENTS OF THE CELL Outer membrane – holds structure and shape Cytoplasm – cellular metabolism occurs Nucleus Contains 23 pairs of chromosomes Each chromosome made of strands of DNA STRUCTURE OF DNA https://www.youtube.com/watch?v=6rv5 Z8EBXwY DIFFERENCES BETWEEN DNA AND RNA RNA differs from DNA mRNA is copy as there is a ribose of DNA specifically group rather than a for the use of deoxyribose group; protein Thymine becomes construction Uraceil bases; single stranded CELL DIVISION Meiosis vs Mitosis Gametes have 23 chromosomes and somatic cells have 46 (23 pairs) One chromosomal pair is the sex chromosomes (XY and XX) Sometimes not all chromosomes come apart during meiosis – Nondisjunction Can result in an egg or sperm having an extra chromosome or missing one INTRODUCTION TO GENETIC DISORDERS MUTATIONS Permanent errors in DNA sequence that affect protein expression or function Underexpression, overexpression or complete absence of genes Caused by: Small changes in DNA sequencing Deletions Duplications Amplification Translocations Inversions DNA CHANGES CONTINUED.. Single Nucleotid Polymorphisms (SNP) Copy Number Variations (CNV) Improper protein function – can change structure and physiology Cells going through Mitosis are usually correctly produced (creating daughter cells) Incorrect DNA is the most likely source of an inherited developmental disability. MOSAICISM AND LYONIZATION People who carry somatic cells with the normal diploid number (23 pairs), but has an extra one or more missing chromosomes or extra chromosomes are said to carry more cell lines Mosaicism – more cell lines Lyonization -Mosaicism occurs in all females (inactivation of the second x chromosome)  CLASSIFICATION OF GENETIC DISORDERS AND INHERITANCE PATTERNS CHROMOSOMAL DISORDERS Caused by too many or too few chromosomes Change in the structure of a chromosome that disrupts its function 60% of all first trimester miscarriages are a result of chromosomal abnormality Syndromes – clinically recognizable sx occurring together Not typically inherited, but still genetic SINGLE-GENE DISORDERS Caused by a sequence change or chromosome abnormality affecting one gene Can also be called “Mendelian” disorders Inherited in 1 of 3 ways: Dominant inheritance Recessive Inheritance X-Linked inheritance OTHER TYPES OF GENETIC Non-Mendelian – essential all other DISORDERS patterns of inheritance that do not segretate with Mendelian Polygenic – combination of 2 or more genes in the absence of environmental factors Multifactoral – genetic mutations + environmental exposures Congenital Imprinting Disorders – rare congenital diseases affecting growth an metabolism UNUSUAL FEATURES OF GENETICS Mitochondrial DNA variation – mtDNA ONLY comes from the mother and are transmitted to all a women's offspring DNA Satellite Sequences – DNA is largely silent (Junk DNA). Repetitive sequences (Trinucleotide) are unstable and thought to change length Transposons – DNA that can’t transpose themselves. Neurodegenertive Prion Disorders – short proteins that infectious properties (contain no DNA) Non-coding RNAs – most common RNA transcribed from DNA does not code for proteins. This is an area of research for future interventions. TESTING FOR GENETIC DISORDERS Can determine if some has a genetic anomaly or is carrying one Cytogenics – looks for changes in chromosome number or structure Chromosomal Microarray analysis – able to screne the entire genome. Genome sequencing – part or whole. Used to detect life threatening conditions in newborns. EPIGENETICS DNA is not just a blueprint, but a world of possibilities Genes can be activated or suppressed (greatly influenced by environment) New research is showing that the human experience is altering DNA and gene expression Now we are less focused on zygotes and more focused on the environmental manipulations CHALLENGES AND FUTURE OPPORTUNITIES Our knowledge is still limited Limitation is the ability to understand the severity of symptoms due to changes in DNA sequencing etc. Human genome sequencing is just the beginning We have a lot of hope for cancer with individualized therapies that target the specific genetic mutation Has been focused on diagnosis – now we want to focus on treatments. This will also lower the cost of treatments and reduction in health disparities  INTRODUCTION TO THENERVOUS SYST EM S  THENERVOU SSYSTEM S AB NO R M A L I TI ES O R D A M A G E TO THE B RAI N O R SENSO RY SYSTEMS CAN CAUSE D EFI CI TS I N: CO M M U N I CATI O N LEARNI NG BEHAVI O R M O TO R 4 4  CENTRAL NERVOUS S YS TEM 4 5 STRUCTURE OF THE CNS Two parts: Brain and the spinal cord Protective factors: Skull, Vertebrae, Meninges and CSF CSF drains into the lymphatic or vascular system CSF is a filtration by-product of blood. Filters out metabolites, drugs, and substances. Brain and spine work together to carry out functions such as behaviors and body maintenance. Blood supplied through Intercranial artiers/carotid arteries Circle of Willis 4 6 CNS CONTINUED 3 types of non-neural supports cells called Glia Microglia- macrophages Astrocytes – nutrition Oligodendrocytes – form myelin sheaths (protect axons) Gray Matter – neurons (body of a nerve cell) White matter – Axons Brain to spinal cord are the main pathway for the peripheral nervous system 4 7 PERIPHERAL N E R V O U SS Y S T E M PARTS OF THE PNS 3 parts of the PNS Somatic nervous system Afferent and Efferent Autonomic nervous system Sympathetic and Parasympathetic Enteric nervous system 49 CELLS OF THE BRAIN Neurons – transmit and process information Neuroglia – perform housekeeping Synapses – chemical and electrical Dendrites – receive signals Axons – send signals 50 NEUROTRANSMITTERS Stored in vesicles and diffuse across the synaptic cleft to bind to receptor molecules in the dendrite Ionotropic and metabotropic GABA is the main inhibitory transmitter. Transmitters can also include: Fatty acids, peptides and catecholamines 51 STRUCTURES OF THE BRAIN External Internal Brain stem Limbic system: Lobes Amygadala, hypothalamus, Parietal, Temporal, Occipital, hippocampus Frontal Basal ganglia – limbic and motor Olfactory bulb functions Cerebral Cortex 52 STAGE OF DEVELOPMENT Before Birth to 2 years Begins at conception Extremely vulnerable at this point Brain growth spurt begins in the last trimester of pregnancy to 2 years 53 STAGE OF DEVELOPMENT CONT’D Factors Lack of oxygen Traumatic physical injury Lack of essential fatty acids, folic acid or other vital nutrients Infections Drugs Toxins (Maternal use of alcohol) Stress Lack of stimulation These all affect normal development. 54 STAGE OF DEVELOPMENT CONT’D Developing fetuses are more vulnerable due to: Rapid development Chemical exposure Blood-brain barrier is not mature Systems for detoxifying and excreting not fully developed More years of which a problem can be developed 55 PLASTICITY Plasticity – means the connections between neurons can form, strengthen, weaken or disappear 10 – 18 months Infants emotions begin to develop Key components for emotion Limbic system –responses to stress and formation of memories Emotion and sensory perception (smelling, hearing, seeing, feeling, and tasting) Vital for survival, growth, development, and the experience of bodily pleasure 56 PLASTICITY CONT’D Adolescence Puberty is a critical time for typical brain development Marked by changes in neuroendocrine function Levels of sex hormones increase Effect the structure and function of the maturing nervous system Influence development of steroid-dependent behaviours Affect stress reactivity Changes in the neuronal circuitry involve steroid-hormone-induced sculpting of certain synapses as well as the pruning of others 57 PLASTICITY CONT’D Aging Characterized Challenges in memory Requires more time to learn new tasks Intelligence, abstract thinking, verbal expression remain the same Life experiences Wisdom - Makes more rationale and flexible Lifestyle is important in preservation of memory 58 BLOOD-BRAIN BARRIER Separates the brain and surrounding tissues Contains: neurons, astrocytes, microglia from the circulating blood Regulates the transport of nutrients Signals molecules into the brain Maintains proper biochemical conditions Blocks circulating bacteria and pathogens Defends against infection Genes are activated and protein recruits white blood cells 59 HYPOTHALAMIC-PITUITARY- ADRENAL AXIS AND STRESS Communication system between Hypothalamus and pituitary gland Various types of stress activate HPA in the CNS and the PNS and the sympathetic nervous system in the PNS Abnormal functioning of the HPA axis resulting in different types of IDD, in mental illness and challenging behaviours As well as physical illness such as cardiovascular disease. 60 HYPOTHALAMIC-PITUITARY-ADRENAL AXIS AND STRESS CONT’D Appropriate responsiveness of the stress system to stressors is necessary for a sense of well-being, adequate performance of tasks, and positive social interactions Inappropriate responsiveness of the stress system may impair growth and development and may account for many endocrine, metabolic, autoimmune, and psychiatric disorders affecting IDD 61 MEASURING BRAIN ACTIVITY AND STRUCTURE Three different approaches: Brain bank – techniques applied to brain tissues collected at autopsy Neuroimaging and Electrophysiological – studies the brains of the living Neuropsychological Assessments – cognitive, intellectual, language, visual-perceptual, scholastic, motor, sensory, and emotional/behavioural abilities 62 PSYCHONEUROIMMUNOLOGY Studies the ways in which a person’s mental state influences development or expression of a disorder, disease, or injury Studies the relationship between psychological processes and the nervous and immune systems Communication between the brain, the stress response, and the immune system is maintained by molecules called cytokines and neurohormones. Carry messages from cells to the brain and immune system and back to the brain 63 NEUROGENESIS IN THE ADULT BRAIN Neurogenesis – formation of new neurons May play a role in erasing old memories and making way for new ones Defective adult neurogenesis in mouse models of certain IDD Down syndrome Rett syndrome Paves the way for new treatment approaches Cognitive deficits Unusual behaviors 64 BRAIN PLASTICITY  NEUROPLASTICITY Brain plasticity (neuroplasticity) refers to the brain's ability to reorganize itself by forming new neural connections. Plasticity occurs throughout life in response to learning, injury, and environmental changes. Types of Plasticity: Synaptic Plasticity: Changes in the strength of connections between neurons. Structural Plasticity: Changes in the number or structure of neurons and synapses. Importance: Vital for learning, memory, and recovery from brain injuries. Enhanced during childhood but continues throughout life. 66 LEARNING MEMORY AND THE BRAIN The brain consists of large numbers of neurons that communicate with each other through electrical and chemical signaling. Sights and sounds are encoded Movements are planned Commands are communicated To learn is to modify the signaling between neurons, by creating new connections or changing the strength with which signaling occurs 67 BRAIN IMAGING Allows for the visualization of brain structure and function. Used in both research and clinical settings to diagnose disorders and study cognitive processes. MRI (Magnetic Resonance Imaging): High-resolution images of brain structures. fMRI (Functional MRI): Detects brain activity by measuring blood flow. PET (Positron Emission Tomography): Measures metabolic activity in the brain. EEG (Electroencephalogram): Records electrical activity in the brain. 68 BRAIN PLASTICITY IN THE CONTEXT OF DISEASE AND INSULT Neurodevelopmental disorders: Often associated with deficits in neuronal plasticity Fragile X syndrome (FXS) Disruption of a single gene Spines remain immature; failed to form fully functioning synapses Decreased efficiency of neural networks during early brain development 69 BRAIN PLASTICITY IN THE CONTEXT OF DISEASE AND INSULT CONT’D Traumatic Brain Injuries – caused by external forces large enough to affect the structure and functioning of the brain Primary Brain Injuries – caused by impact Secondary Brain Injury – raised intercranial pressure, edema, and ischema Effects the brains functioning for months or years 70 BOOSTING PLASTICITY AS TREATMENT At critical periods of development the brain undergoes important structural changes Earlier interventions have higher probability of success The young brain; targeted behavioural interventions Cognitive behavioural therapy (CBT) effective in pediatric OCD Increasing gray matter in frontal cortex CBT targets brains ability to rewire itself 71 BOOSTING PLASTICITY AS TREATMENT CONT’D Exercise Improving fitness increases overall brain health Decreases inflammation and pathological processes Important processes that support brain plasticity Aerobic exercises Cardiorespiratory fitness Contribute to healthy brain aging 72 Factors Causing or Contributing to Intellectual and Developmental Disabilities CHAPTER 13 Overview ▶ Disabilities are more common in developing nations ▶ 1% of the population (although likely underestimated). Only 0.5% are severe. ▶ 1/6 children in the US are thought to have a disorder (autism, ADHD, seizures, hearing loss, learning disorders etc (this was back in the early 2000’s) ▶ 25%-50% of developmental disorders are thought to be genetic ▶ Four factors contributing to IDD ▶ Biomedical ▶ Social ▶ Behavioral ▶ educational Brief Review ▶ Genetics – human bodies contain 46 chromosomes; 23 from mother and 23 from father ▶ Nature vs Nurture : ▶ Nature – abstract traits such as intelligence, personality, aggression, and sexual orientation are encoded in a person’s DNA ▶ Nurture – behavioral aspects of humans originates from the environmental factors of upbringing ▶ Epigenetics – study of changes in gene activity; caused by things other than the genes themselves. ▶ Brain Plasticity – (Neuroplasticity) changes in neural connections that occur in the brain when people learn new things or memorize new information Biomedical ▶ Fetal Vulnerability – substances and agents that induce physical deformities in the fetus and CNS – teratogens ▶ Genetic Causes – variable in their expression ▶ Most common genetic disorders: ▶ Down Syndrome ▶ 22q11.2 deletion Syndrome ▶ Fragile X Syndrome Biomedical ▶ Inborn Errors of Metabolism ▶ 89 potentially treatable genetic disorders (Inborn Errors of Metabolism) ▶ Can not turn food into energy ▶ Phenylketonuria (PKU) ▶ Galactosemia ▶ Hunter Syndrome ▶ Lesh-Nyhan Syndrome Biomedical ▶ Sex Chromosome Disorders and Imprinting Disorders ▶ Abnormalities in the number of sex chromosomes – cause mild intellectual disabilities and physical anomalies ▶ Turner Syndrome ▶ Klinefelter Syndrome ▶ Two different but related developmental disorders ▶ Prader-Willi Syndrome ▶ Angelman Syndrome ▶ Both are related to deletions or duplications in chromosome 15 Biomedica l ▶ Other Disorders ▶ Congenital Hypothyroidism – thyroid hormone deficiency ▶ Genetic mutations or iodine deficiency (easily treated) ▶ De Novo single nucleotide mutations and loss of function mutations ▶ Autism Spectrum Disorders (ASD) ▶ Mitochondrial disorders – mutation in mitochondrial DNA (not common) ▶ Can be maternally inherited ▶ Myoclonic epilepsy with ragged red fibers ▶ Mitochondrial Myopathy, encephalopathy, lactic acidosis, and stroke syndrome – a progressive neurodegenerative disorder Other Factors that Affect Genetic Causes of Disability ▶ Ethnic Origin – may influence the chances of a child being affected by or being a carrier of a genetic disability ▶ Survival Advantage – phenomenon associated with recessive mutant genes ▶ Sickle Cell Anemia – Red blood cells are sickle shaped ▶ Beta Thalassemia – body cannot make the beta chains of hemoglobin ▶ Being the carrier of only one mutant gene is an advantage Health Related Factors ▶ Malnutrition ▶ Maternal malnutrition prior to conception ▶ Protein – energy undernutrition and deficiencies of certain vitamins (folic acid, vitamin B12, Vitamin A) and minerals (iodide, zinc, iron) ▶ Economic, social, and cultural factors Health Related Factors Folic Acid and B12 Deficiencies ▶ Required by the body to make new cells ▶ Folic acid deficiency is a risk factor for neural tube defects (Spina Bifida) and Anencephaly (missing or reduced amount of brain tissue) ▶ Vitamin B12 Deficiency is a risk factor for neural tube defects Health Related Factors ▶ Vitamin A Deficiency and Excess ▶ Crucial for normal nervous system development ▶ Important for proper function of the immune system ▶ Leading cause of preventable blindness in children ▶ Risk of disease and death from severe infections accompanied by diarrhea and measles ▶ Vitamin D Deficiency ▶ Is a prohormone ▶ Known as the “sunshine vitamin” ▶ D sufficiency is essential for preventing rickets in children ▶ Contributes to abnormal fetal development Health Related Factors ▶ Iodine Deficiency ▶ Helps to prepare the immune system to do its job ▶ Has been associated with adverse postnatal behavioural outcomes ▶ Complications of iron deficiency anemia in infants: ▶ Developmental delays ▶ Behaviour disturbances – decreased motor activity ▶ Social interaction and attention to tasks ▶ Compulsive eating of non-food items (PICA) (caused by) ▶ Irreversible impairment of learning ability Health Related Factors ▶ Toxic Threats ▶ Can result in problems with attention, memory, learning, social behavior, and intellectual ability ▶ Toxic threats include: ▶ Methylmercury ▶ Polychlorinated biphenyls (PCB’s) ▶ Ethanol ▶ Lead ▶ Arsenic ▶ Tolulene ▶ Manganese ▶ Flouride ▶ Pesticides (DDT, DDE) Maternal Metabolic Affects ▶ Maternal Obesity and Diabetes ▶ Increased risk of neural tube defects ▶ Type I diabetes some have it before pregnancy and some develop it during known as gestational diabetes ▶ Maternal diabetes diagnosed at 26 weeks gestation creates a significant risk factor for ASD Maternal Metabolic Affects ▶ Abnormal Thyroid Function ▶ Three types of thyroid disorders that affect fetal development: ▶ Hyperthyroidism – makes too much thyroid hormone ▶ Hypothyroidism – thyroid doesn’t make enough thyroid hormone ▶ Congenital Hypothyroidism - Results in permanent developmental delay and growth defects ▶ Maternal Stress ▶ Can result in emotional problems, symptoms of ADHD, ASD, or impaired cognitive development  ▶ Infections ▶ Intrauterine or Perinatal ▶ Toxoplasmosis ▶ Other (Syphillis, varicella-Zoster, Parvovirus B19) Maternal ▶ ▶ Rubella Cytomegalovirus Metaboli ▶ Herpes Virus Human Immunodeficiency Virus (HIV) c Affects ▶ ▶ Zika Virus ▶ Teratogen causing microcephaly ▶ Rh Disease in the newborn ▶ Pre-term delivery and low birth weight Maternal Metabolic Affects ▶ Premature Cutting of the Umbilical Cord ▶ Cord clamped before babies first breath and before the cord stops pulsating ▶ Decreases baby hemoglobin levels and iron stores causing anemia ▶ Advanced Parental Age ▶ Trisomy 21, 13, and 18 are three syndromes associated with increased maternal age ▶ Brain Injury ▶ Brain injury is a common cause of cerebral palsy ▶ Falls ▶ Child battery ▶ Bicycle, scooter or sports ▶ Complications during delivery Social, Behavioural, and Educational Risk Factors Co-Occurrence of Sensory Impairments and IDD ▶ Sensory impairments, challenging behavior, mental health are very common in people with DID ▶ Sensory impairment -> decreased sensory exposure -> underdeveloped area of the brain = more challenging behavior Co-Occurring Challenging Behaviours, Mental Health Disorders and IDD ▶ 3 to 4 times more likely ▶ People with ASD – severe disabilities, sensory impairments and communication disorders ▶ Increased risk of having co-morbid mental health disorders ▶ ADHD ▶ Schizophrenia ▶ Depression ▶ Bipolar Disorder IDD and Prevention ▶ New born screening programs ▶ Immunization programs ▶ Access to early comprehensive prenatal care ▶ Counselling women with PKU to use a restricted diet ▶ Removal of lead from the environment ▶ Safe storage of toxins ▶ Use of child safety seats, bicycle helmets and sports helmets ▶ Installation of pool fencing ▶ Measures to avoid drunk driving ▶ And many more…… FRAGILE X SYNDROME This Photo by Unknown Author is licensed under CC BY-NC-ND  THE NATURE OF FRAGILE X Prevalence 1 in 4000 males and 1 in 8000 females Prevalence of unaffected carriers of an abnormal fragile X gene 1 in 290 males and 1 in 148 females Located on the X chromosome Fragile X mental retardation 1 (FMR1) A mutation of the FMR1 gene  THE NATURE OF FRAGILE X Males: Require specialized help at school Supported employment Assistance with community living Females: Milder cognitive impairment Fewer clinical features Public awareness is very limited  Impact on the family: Influence family planning Affect education Health care NATURE OF Financial planning FRAGILE X Life planning for siblings Future descendants There is no cure for FXS WHY IS IT CALLED FRAGILE X “The term Fragile X comes from the observation of a fragile site on the tip of the X chromosome of males and some females who have this disorder.” This Photo by Unknown Author is licensed under CC BY  Vary from one person to another Males have some degree of cognitive impairment, behavioral problems, including aggression, anxiety and autistic behaviors 1 in 3 or 30% meet the diagnostic criteria for Autism Spectrum Disorder PHENOTYPE OF FRAGILE X Physical features include: a long face, prominent jaw and ears, high arched palate, flat feet, loose joints Females have milder impairments – learning difficulties, anxiety and shyness Female physical features are similar to males  SUBPHENOTYPES FXS often resembles the phenotypes of other genetic disorders Obesity Phenotype – Truncal obesity; short, broad hands and feet; hyperpigmentation; small genitals often confused with Prader-Willi syndrome Overgrowth Phenotype – above-average birth weight; increased head circumference; extreme overall body growth and increased height. Resembles Sotos syndrome.  Identified in 1991 was the FMR1 gene GENETICS Everyone has the OF FRAGILE FMR1 gene on their x chromosome X People with FXS the FMR1 gene is mutated  Patterns of heredity are influenced by: GENETIC Size of the FMR1 gene EFFECTS Gender of the parent Gender of the child  GENETIC EFFECTS Size of the FMR1 gene Made up of four different bases: ATCG (Adenine, Thymine, Cystosine, Guanine The mutation is in response to too many bases The extra bases come in sets of three C G G CGG CGG – called triplet repeats Four categories: Normal Full mutation Premutation Intermediate/gray zone  NORMAL FMR1 REPEATS Between 6-54 repeats the person is said to have a normal FMR1 gene  FULL MUTATION Number of copies of the C GG repeats exceed 200 Prevents the gene from producing the protein that it codes for This is the cause of FXS All males with the full mutation are affected Only half of females with the full mutation are affected In females the X chromosome is either active or inactive Only females with the x chromosome that the mutation sits on that is active will be affected. Females that have full mutation can either pass on their mutated gene or their normal one to sons or daughters. Mutation size of the sperm of males with a full mutation passes on in a premutation size; meaning any daughter they have will be permutation carrier  PREMUTATION 55-200 copies of the CGG repeat Males and females with permutation do not have FXS They are called permutation carriers Some female permutation carriers develop premature ovarian failure or early menopause Older female and male carriers develop the FXS associated tremor/ataxia syndrome (FXTAS) Dependent on the size of the mutation the female carrier can pass this gene onto their child it can expand to full mutation or stay within the permutation phase Mutations within the 55-65 range rarely expand to full mutations but if they expand to 80 repeats they do. Males who pass their permutation onto their daughters have a very small chance of expansion  INTERMEDIATE /GRAY ZONE 45-54 copies of the CGG repeat Do not have FXS The repeat size may increase in their children to a permutation size  FMR1 permutation gene is passed from fathers to daughters Low probability of GENDER expanding to full mutation OF THE PARENT When passed from the daughter to her children can often expand to full mutation  GENDER OF THE CHILD Males with full mutation are always affected Not all females with a full mutation are affected Females who are affected are usually less affected than their male  GENETIC TESTING Done by directly examining the FMR1 gene and the CGG repeats Started in 1991 Two tests used: Polymerase chain reaction or PCR Southern blotting Both tests require a small amount of blood or a cheek swab so are inexpensive and enable the study of large populations  WHO IS ELIGIBLE FOR TESTING Anyone with a family history of FXS Anyone with IDD or autism spectrum disorder with unknown causes Relatives of an affected individual Can be tested at any age as well as for the developing fetus  IMPACT ON FAMILIES Difficulty getting a diagnosis Lack of knowledge about FXS in professionals Difficulty explaining FXS to others Difficulty finding appropriate community living Problems with family relationships Difficulties with the education system Issues regarding sexuality Challenges in finding recreation Complications in long-term planning  HEALTH CARE NEEDS Not all people with FXS have medical complications But they are at higher risk for: See table 15.2 for a full summary of problems that can arise Recurrent Otis media is common – tubes to drain fluid from the middle ear may be implicated Adults with FXS may have had long term conditions that may have been over looked  Interventions may be required to include or medical therapies behavioral to: Modify sleep disturbances Hyperactivity Short attention span or other concerns SERVICES Specialized services include: AND Assessment of fine motor or gross motor functioning SUPPORTS Assessment of speech and language Assessment of learning abilities Occupational therapy/physiotherapy  SPECIALIZED INTERVENTION STRATEGIES Changes in routines could result in behavioral outbursts Loud noises and bright lights can be distracting and cause problems in the learning environment. What are some disturbances that might occurs? Change in routine Loud noises Lights Crowds  PROGRAMS AND SERVICES Five types of beneficial programs: Infant development/stimulation programs – birth to 2 years Hanen Centre – helps parents, educators and professionals assist children in developing communication skills Child Care placements – provides a stimulating environment with peers Preschool development services – activities to stimulate development and plan the transition to school Special Education Services – from birth to 21 years of age; programs vary  FRAGILE X RESEARCH The FMR1 Protein Strategies designed to maximize functioning Premature ovarian failure/Primary ovarian insufficiency Fragile X-Associated tremor/ataxia syndrome Distributions of FMR1 Alleles and Prevalence of mutant alleles in different populations Educational strategies Health Care concerns (being studied at Queens University by Dr. Patricia Minnes) AUTISM SPECTRUM DISORDER AUTISM The broad term of ASD replaces other terms SPECTRU previously known as Autistic Disorder, Disorder, PDD – NOS, Childhood D ISORD M Asperger’s Disintegrative Disorder ER Change to ASD – specific subtypes were not always considered reliable and a spectrum was a better representative Reduced to two 1. Persistent broad deficits areas of difficulty in social communication/interaction 2. Restricted repetitive patterns of behaviors, interests or activities  All 3 criteria in section A of the DSM-5 must be met Social emotional reciprocity Nonverbal communicative behaviors Deficits in developing and maintaining DEFINITION relationships AND 2 or more sx from DESCRIPTI section B ON OF ASD Stereotyped or repetitive motor movements, use of objects, or speech Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal/nonverbal behavior Highly restricted, fixated interests that are abnormal in intensity or focus Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment  Children are diagnosed on average at about DIAGNOS four years of age IS Parents often report symptoms as early as before 2 years of age When ASD is suspected the child should be assessed as soon as possible “Red Flags” to watch for in children between 18 months and 2 years of age: Not responding to their names Not making eye contact Not pointing to or show or share interest Not speaking or using gestures Not imitating DIAGNOS IS Diagnosis should be done by an interdisciplinary team by: Observing the child Review of the child’s history Diagnostic interviews with parents Completion of diagnostic rating scales designed to measure ASD Assessment of the child’s cognitive and language level  Important aspects to consider: Differential diagnosis – the child’s symptoms are ADH not better D or fit toIntellectual another another disorder disability such as Comorbidity – does the child have DIAGNOS more than one diagnosis IS A full medical assessment should be done to rule out other genetic disorders or syndromes. OVERLAP WITH OTHER DID Very common for children with ASD to have other DID Support and Intervention need to understand ASD can be severe and cognitive functioning is on a spectrum Common mental health concerns: Attentional problems Emotional regulation difficulties Issues with anxiety and depression PREVALEN CE 1 in 100 or 1% (globally) ASD occurs in all racial, ethnic and socioeconomic groups More common in boys than girls (4:1) Early diagnosis =increased awareness among community professionals = increased resources  CAUSE S ASD is not caused by poor parenting ASD is a biological disorder, with no single cause 10-15% of people diagnosed with ASD have another neurological, chromosomal, or genetic diagnosis such as: Down Syndrome Fragile X Tuberous sclerosis CAUSES Twin studies have shown that identical twins are much more likely to both have ASD than fraternal twins People with ASD have a higher than average rate of seizures – 20-25% Some children born prematurely; low birth weight are at greater risk Children born to older fathers and mothers are at greater risk Serotonin thought to be elevated (in some studies) Environmental causes – not yet known (BUT NOT VACCINES) INTERVENTIONS Considered a lifelong disorder Future for children with ASD in the 21st Century is much more optimistic than it once was Educational approaches should be individualized and evidence based This Photo by Unknown Author is licensed under CC EARLY INTERVENTION Early intensive behavioral intervention (EIBI) result in significant improvements in cognitive level Children’s outcomes depend on: Pretreatment age Quantity and quality of treatment – children 2 – 31/2 receiving 40 hours per week achieved “best outcome” Family factors EARLY Pivotal Response Treatment (PRT) – uses INTERVENTIO behavioral principles in a naturalistic way, N encouraging learning and child-directed natural reinforcers. Focuses on “pivotal” behaviors such as child motivation Early Start Denver Model (ESDM) – combines behavioral, developmental, and relationship-based approaches and is delivered intensively by therapists and parents in the home. Learning Experiences and Alternate Program (LEAP) – receiving specialized behavioral intervention in naturalistic, inclusive preschool settings; teachers and peers are trained on how to interact with the child. EARLY INTERVENTION Programs with the strongest support usually rely on Applied Behavior Analysis (ABA) and behavioral strategies. Characteristics of successful programs are: Begin very early It is intensive 20-40 hours per week for up to 2 years Uses structured behavioral teaching principles such as shaping and reinforcement It is comprehensive – including language, play, social skills, academics, self-help skills It is individualized based on strengths, weaknesses, and preferences Uses trained staff that are supervised frequently It involves frequent data collection It involves systematic, supported inclusion with developing peers It involves parents in programming EARLY INTERVENTION Despite all of Vocational skills these and life skills interventions become more children with ASD important as the will require individuals with supports in school ASD get older. and adult life  Six core elements for providing comprehensive educational intervention programs: Use systematic instruction EDUCATION Create individualized supports and AL services INTERVENTI Provide comprehensible and structured ON learning environments Have a specialized curriculum focus Use a functional approach to problem behavior Involve families and developing peers SERVICES Services for Adults can be very complex FOR Serious shortage of services available for Adults ASD with WITH ADULTS ASD Emerging evidence supports CBT in those with high functioning verbal skills Medications used to treat symptoms but not ASD itself Irritability or high activity level Depression and anxiety Beware of “miracle cures”  22Q11. 2 DELETIO N SYNDRO  22Q11.2 DELETION SYNDROME Common The spectrum and multisystem severity of its disorder expression along associated with with the cardinal intellectual and features varies developmental with age disabilities  22Q11.2 DELETION SYNDROME Prominent features: Heart problems at birth (congenital heart defects) Abnormalities in the hard and soft palate (velopharyngeal insuffiency) Low calcium levels (hypocalcemia) Problems with the immune system Presence of ASD, ADHD and anxiety disorders Schizophrenia spectrum disorders  22Q11.2 DELETION Found in the early 1990’s SYNDROME A shared same genetic change: a deletion in the long arm of one of the pairs of chromosome 22 Prevalence: 1 in 2000-4000 live births Both sexes and all racial and ethnic groups are eff ected Second most common genetic cause fo developmental delay after Down Syndrome Sometimes called DiGeorge’s syndrome  GENETI 90% of aff ected individualsC S a large deletion that spans 90 genes have including 46 that are protein-coding 10% of aff ected individuals have the smaller proximal deletion that encompasses 30 protein-coding genes There is no relationship between the size of the deletion and the clinical expression 90% of cases result from a spontaneous mutation (neither parent has the deletion) 10% are found to have one parent that has the deletion Anyone that has the deletion has a 50% chance of passing the deletion onto their offspring and girls and boys are equally aff ected  CLINICAL MANIFESTATIONS AND Congenital Cardiovascular MANAGEMENTDefects Improperly formed parts of the heart and blood vessels are a core feature Tetralogy of Fallot – defect that involves four anatomical abnormalities of the heart and eff ects 10-20% Interrupted aortic arch type B - the main blood vessel of the heart Milder congenital heart defects – ventricular septal defect ( a hole of the bottom two heart chambers) -may escape medical attention  CLINICAL MANIFESTATIONS Palatal Abnormalities and AND Related Manifestations MANAGEMENT Development and functioning of the palate is aff ected in the majority Contributes to poor feeding in infants and speech difficulties later on Weakness of the closing of muscles that separate the nose and mouth Soft tissue and frank anatomical clefts Speech therapy may improve function Poor coordination of the involved muscles, shortness of breath due to cardiac defects all contribute to feeding and swallowing problems in infancy Neuromuscular incoordination and its surgical treatment contribute to risk for sleep apnea  CLINICAL MANIFESTATIONS Facial Features AND A long, narrow face MANAGEMENT A prominent nasal root with a fullness to the nasal tip Widely spaced eyes with hooded eyelids and a narrow space between the upper and lower eyelids A small mouth Malformed ears See figure 17.1 in the text for a picture of how this manifests Manifestations are subtle and can be missed more so in non-caucasian  CLINICAL MANIFESTATIONS AND Immune-System Related MANAGEMENT Disorders Ability to fight infectious disease is compromised Do not develop life-threatening infections Infections may be prolonged, frequency in upper respiratory infections increased Diseases that may occur related to autoimmune disease include psoriasis, juvenile rheumatoid arthritis, and thyroid disease  CLINICAL MANIFESTATIONS AND Endocrine-RelatedMANAGEMENT Diseases Low serum levels of calcium are the result of inadequate parathyroid hormone secretion; hypocalcemia can emerge at any age Ranging in symptoms from irregular heartbeats to severe seizures Milder symptoms include: fatigue, emotional irritability and abnormal involuntary movements Monitoring of calcium levels and parathyroid hormone is recommended Hyperthyroidism is found in about 5% Hypothyroidism is found in about 30%  CLINICAL MANIFESTATIONS AND Growth MANAGEMENT Failure to thrive is found commonly on children, those younger than 5 years of age May be caused by growth hormone defi ciency Weight usually recovers as they get older Height can be incomplete, and you may see a shorter stature; found in 1 of 5 adults  CLINICAL MANIFESTATIONS AND Neuromuscular orMANAGEMENT Musculoskeletal Abnormalities Deformities of the neck vertebrae and abnormal curvature of the spine are prevalent in more than 45% Musculoskeletal abnormalities supernumerary or absent ribs are less common but still more prevalent than the rest of the population Clinical consequences of cervical spine abnormalities could be instability, or spinal cord compression and may require surgery  CLINICAL MANIFESTATIONS AND Hematology and/or MANAGEMENT Cancer Have a low platelet count Red low blood cell count Pediatric cancer (malignancy) – increased risk Hepatoblastoma (liver cancer) has been reported as an increased risk  CLINICAL MANIFESTATIONS AND Gastroenterological Abnormalities MANAGEMENT Difficulties in swallowing May still be present in adulthood compromising the ability to swallow foods and medications GERD Gallstones in the gall bladder Constipation Structural bowel anomalies – present at birth and may require surgery  CLINICAL MANIFESTATIONS AND Genitourinary Abnormalities MANAGEMENT Malformations in the urinary tract (missing kidney) in nearly a third of individuals In males – absence of one or both testicles in the scrotum and an abnormally placed opening in the urethra Ultrasound should be performed at diagnosis  CLINICAL MANIFESTATIONS AND Sensory-Related Abnormalities MANAGEMENT Hearing loss and/or narrow external ear canals Recurrent ear infections – may require surgical tube placements Impaired sense of smell – affects the flavor and enjoyment of food but also can hinder the individual's ability to detect potentially toxic fumes, smoke, and spoiled food Severe eye problems are uncommon but errors in the focusing of the eyes, problems with eye alignment and twisted blood vessels are observed  CLINICAL MANIFESTATIONS AND Dental MANAGEMENT Abnormal development of teeth Enamel disturbances And chronic cavities are noted  CLINICAL MANIFESTATIONS Neurologic AND MANAGEMENT Seizures and epilepsy frequently occur Recurrent seizures are common 5-7% have epilepsy Optimal seizure control Lifestyle recommendations including antiepileptic drug treatment, attention to medical conditions that require specifi c treatment. Adults are at an increased risk of developing early onset Parkinson’s Disease  CLINICAL MANIFESTATIONS AND Neuropsychiatric MANAGEMENT Manifestations Experience a wide range of treatable psychiatric disturbances ADHD (diagnosed in 40% of children) ASD (equally can affect both males and females) Treatable anxiety, mood disorders are common from childhood on Markedly elevated risk for developing schizophrenia spectrum disorder Families need to be informed about the vulnerability to major psychiatric illnesses and their potential treatments as they will be the ones likely to first see signs and symptoms.  Infancy and Early Childhood Delayed developmental milestones are common Delays in motor milestones such as crawling, walking and language development INTELLECT UAL AND Beginning to talk is about 24 to 36 months as ADAPTIVE compared to the normal 12 – 16 months FUNCTIONI Recommendations: NG A C R O SS Prolonged kindergarten before entering THE elementary school LIFESPAN Supports may be necessary when starting school Consider advance planning for a smooth transition to school Special education classes or pairing with a teacher’s aid  INTELLECTUAL AND ADAPTIVE FUNCTIONING A C R O SS THE LIFESPAN School-age Children Borderline to mild range of intellectual functioning Boys and girls have similar cognitive profiles Atypical profile across multiple neurocognitive domains such as academic progress, day-to-day functioning Areas of strength include reading, spelling, and rote verbal learning and memory Areas of deficit are mathematics, visuospatial skills, visuospatial memory, attention, working memory, and motor functioning  INTELLECTUAL AND ADAPTIVE FUNCTIONING A C R O SS THE LIFESPAN School-age Children Cont’d Cognitive abilities in some children decline over time Special assistance in class is often necessary Speech-language therapy as well as occupational and physiotherapy are often indicated  INTELLECTUAL AND ADAPTIVE FUNCTIONING A C R O SS THE LIFESPAN Adolescents Similar pattern as that observed in school-age children Cognitive assessment should be revisited at the onset of adolescence; the cognitive profile including both strengths and weaknesses may change IQ decline is observable in a subset of these individuals Some show some cognitive improvements over time Social, academic, and other functional support needs may become more apparent Cognition and behavior may be associated with the onset of neuropsychiatric disorders  INTELLECTUAL AND ADAPTIVE FUNCTIONING A C R O SS THE LIFESPAN Adolescents Cont’d Approaching adulthood the use of supported decision making may need to be considered Some may function with minimal assistance and function independently Internet safety – vulnerable to financial exploitation and sexual exploitation has become a growing concern  INTELLECTUAL AND ADAPTIVE FUNCTIONING A C R O SS THE LIFESPAN Adulthood Is characterized by widespread cognitive and functional impairments Schizophrenia is an important mediator of cognitive functioning Average IQ is lower in those with schizophrenia – tend to perform worse on tests of cognition, verbal learning, and motor skills Employability and ADL’s are often strengths Few are financially independent related to difficulties maintaining employment due to medical or psychiatric issues and/or poor money management skills  INTELLECTUAL AND ADAPTIVE FUNCTIONING A C R O SS THE LIFESPAN Adulthood Cont’d Financial assistance from Family and government resources is common Some people marry and have children more so for those that have average intellect and no psychotic illness In older adulthood evidence suggests significant intellectual deterioration especially for people with a history of psychosis The progression of Parkinson’s Disease also contributes to cognitive anf functional deterioration  GE NE T IC COUNSELING The aff ected person has a 50% chance of passing the deletion on in each pregnancy Genetic counseling should include a discussion about causes, detection, variability of expression, interventions, anticipatory care, preconception and prenatal options Should always be follow-up counseling to reinforce concepts, convey updated information and should also occur at each new life stage With teenagers reproductive risks and transition to adulthood should be discussed Cerebr al Palsy This Photo by Unknown Author is licensed under CC Cerebral Palsy Is a motor disorder caused by an injury to the developing brain Four Features of Cerebral Palsy – Onset before, during or after birth present before two years of age; often diagnosed within the first year of life – Motor difficulties that are secondary to brain injury – Decreased control of movements with poor motor coordination, balance, muscle stiffness, abnormal movements – Non progressive but permanent Early Identifiers Identifying factors in the first year: – Motor milestones are delayed (sitting, standing, crawling) – Commando crawling – walking on their tip toes – sometimes an early hand preference – generally have typical intelligence Diagnosing Diagnosis by: – abnormalities in neurological exam muscle tone motor function – MRI of the brain Prevalence Most common cause of childhood physical disability – Estimated to be 2 out of every 1000 births – Numbers have remained stable Risk Factors Prematurity Genetic vulnerability Environmental stressors See table 20-1 Usually the intersection of preconception, prenatal, intrapartum and neonatal risk factors that contribute Few strategies are available for prevention thus the numbers remain stable  Causative conditions: – Neonatal encephalopathy (low oxygen level during delivery) Reduced oxygen to the brain Caus causing cell death Causing damage to the areas e of the brain that control motor function Represents up to 33% of children born in term  Three types of Cerebral Palsy: Type – Spastic – Dyskinet s ic – Ataxic  Neurological stiffness Unilateral Spastic Cerebral Palsy - Hemiplegia Spasti Increased reflexes Subdivided into Bilateral c and Unilateral Bilateral - Spastic Diplegia (legs only) All four limbs - Spastic Quadriplegia  Involuntary movements: – Sub-types: Dystonic Choreoathetotic Dyskinet Dystonic - marked fluctuation in ic tone (stuck in abnormal postures) Choreoathetotic - hyperkinetic involuntary movements (increased activity)  Poor balance Decreased Ataxi muscle coordination Mixed Cerebral Palsy is a c combination of the three types  Types of impact: – ability to move Impa – complete ADL's – Cognitive and ct language abilities – Physical health  Difficulty controlling and planning movements – –independent use of manual and electric wheelchairs Individuals with hemiplegic Moveme and spastic diplegia are able to walk nt Spastic quadriplegia and dyskinetic Cerebral Palsy utilize a wheelchair  Gross Motor Function Classification System (GMFCS) – Created in Hamilton Ontario classifies Cerebral Palsy according to gross motor function dividing into 5 ability levels: Moveme Level I - walks without restrictions nt Cont'd Level II - walks without assistive devices (difficulty with changes in terrain) Level III - walks with assistive mobility devices (canes, walkers) Level IV - self-mobility with limitations (use power wheelchair when outdoors and in the community)  Relies on the motor control ADL' of the hands – hemiplegic - become very good at utilizing one hand s an – Spastic quadriplegic and dyskinetic cerebral palsy often require a greater d support system for ADL's – Manual Ability Classification System (MACS) is similar to the GMFCS speaks to the Hand ability a person has to do activities with their hands Level I - Level 5 Contr  Generally have typical intelligence Some are at risk Learnin for developmental delays g – Intellectual disabilities – Learning disability – Ranges from 30- 60% Speech and Language Most able to speak fluently and clearly Some level of difficulty with articulation Can be difficult for listener to understand Some are unable to speak due to motor difficulties – picture or symbol displays – computer voice output systems Most speech difficulties are associated with dyskinetic cerebral palsy  At Risk for: – Seizures 20-30% (often treated with Medica anticonvulsants) – Visual impairment – Strabismus - turning in or out l of the eye (often treated with a surgical procedure to align both eyes) an – Hearing loss (addressed with hearing aids) – Dental cavities d – Drooling (past 5 years of age; can be treated with surgical procedure to move saliva ducts farther back in the mouth) Physic Medical and Physical – Swallowing difficulties, poor growth/nutrition, aspiration pneumonia, GERD, and constipation Spastic quadriplegia and Dyskinetic Cerebral Palsy Thickening liquids, Physical position on feeding Feeding tubes – G tubes are well managed with training by family members in the community setting. – Orthopedic complications Leading to joint contractures Surgeries to lengthen the tendons of the muscle to increase flexibility  Able to walk and do not have medical issues such as epilepsy - same as general population 5-18 year survival rate is 98-89% Level 5 Cerebral Palsy for Life shortened lifespan Expectan Significantly reduced if the person is unable to self-feed People with complications such cy as: hard to control seizures, GERD associated with aspiration pneumonia are at highest risk of early death 20's to early 50's  Interventions for people with Cerebral Palsy HEALTH PROMOTION AND WHO CAN BE SERVICE COORDINATION INCLUSION/PARTICIPATION INVOLVED IN?  Use of Botulinum toxin type A (Botox) to Advances manage in Manageme spasticity Constraint nt therapy (intensive motor therapy) Transition s Supportive school environment -> Adult life in the community – Planning for supports in the community – Should begin in early teens – Risks Isolation Employment Establishing long-term relationships – 55% not living with a partner – Do not have biological children Health care needs – Wheel chair bound = increase risk of cervical spinal stenosis – gradual decline in mobility presence of epilepsy and degree of intellectual disability were the best indicators of long-term participation  Future Treating women that are in preterm labor with magnesium sulphate reduces the risk Use of cooling for 72 hours for treatment in the immediate newborn born with neonatal encephalopathy reducing frequency and severity Treatment of melatonin supplement to pregnant mothers carrying a growth restricted baby reducing oxidative stress Stem cells given to infants with or at risk for Cerebral Palsy. Fetal Alcohol Spectrum Disorder CHALLENGE S IN CHILDHOOD This Photo by Unknown Author is licensed under  1. Growth deficiency 2. Facial anomalies Triad 3. CNS dysfunction Leading PREVENTABLE Features cause of intellectual disability and birth defects Approaches to Diagnosis 1. FAS with confirmed alcohol exposure 2. FAS without confirmation of maternal alcohol exposure 3. Partial FAS with confirmation of alcohol exposure 4. Alcohol-related birth defects (ARBD) 5. Alcohol-related neurodevelopment disorder (ARND) Can be identified at birth if severely affected  Cost of raising a child with FASD is $2million (+ 0.5-4 million) 9.1 cases per 1000 births (1%) Prevalence May be as high as 2.4- 4.8% Alcohol use screening is Involvement of Alcohol and other Risk Factors No known safe amount of alcohol Alcohol is absorbed by the mother's stomach, enters the blood stream, crosses the placenta into the infant where it is excreted into the amniotic fluid and absorbed again during fetal inhalation (and transdermally) Fetal liver is not mature enough to detoxify alcohol Degree and location of fetal damage: Timing Amount Duration of exposure  Alcohol Exposure 12% of pregnancies have alcohol exposure Adverse outcomes often also have: inadequate nutrition, smoking, limited prenatal care, older maternal age 80% have at least one abnormality if heavy drinking was involved 5 or more drinks at a time  Neuroimaging Changes MRI, EEG, functional MRI, all used to study the brain Reduction in volume and shape ◦ Corpus callosum (band between two hemispheres ◦ Caudate nucleus (near the front of the brain) ◦ Cerebellum (small brain) fMRI children with FASD have different activation patterns during tasks Disruption in functional connectivity of white matter  A B C A. MRI showing the side view of a 14-year-old control subject with a normal corpus callosum; B. 12-year-old with FAS and a thin corpus callosum; C. 14-year-old with FAS and agenesis (absence due to abnormal development) of the corpus callosum.  Elementary Functions – basic sensory and cognitive processes (responding to a noise or visual Cognitiv stimulus) ◦Orienting Responses – children e- with FASD are slower to respond to auditory and visual stimuli but Behavio have a higher level of arousal ral ◦Eyeblink Conditioning – reflex of neural stimulus that predicts Outcom an unconditioned stimulus es (slower in those with FASD)  Cognitive Behavioral Outcomes Complex Functions – typically evaluated in clinical assessments such as intellect, attention, language, executive function, memory and learning Intellectual Ability – IQ diminished in those with FASD (1-2 standard deviations below or IQ of 70-85). However, SES is thought to play a critical role Attention – do one task and ignore others, focus and maintain interest. Testing as showed more difficulty in those with FASD Executive Function - higher order abilities to attain goals. FASD demonstrates challenges with complex EF not necessarily simple. Language – evidence is mixed. Thought that exposure in 3rd trimester poses the greatest risk. Syntax, semantics and oral-motor abilities are thought to be most affected Memory and Learning - “what is learned one day is gone the next.” Deficits in both verbal and visual memory. Memory support is thought to be beneficial. Other functions – math is difficult, social skill challenges (related to impulsivity) – different from those with ADHD  Behavioral Observations Wide range of behaviors – anxiety, depression, hyperactivity, aggression, conduct disorder all reported. Different from ADHD as there is also confusion and drowsiness Limited adaptive behavior More likely to use drugs, alcohol and have trouble with the law (BUT!!!!) Ultimately, people with FASD have slower processing, decreased social skills and difficulty with executive functions which can make it very difficult for them to live This Photo by Unknown Author is licensed under  Known to experience disproportionate amounts of violence, neglect and abuse Proven to help: Stable home, lack of multiple placements, good parenting, dx before age 6, no abuse and being evaluated for early intervention services Evidence-based Guided Experiences Interventi – working with children to self- ons and regulate, using concrete examples, hands on experiencing Supports Managing comorbidities – ex. ADHD or depression Safety Skills – due to impulsivity more at risk for injuries Language and literacy skills Math Interactive Learning  Fetal Alcohol CHALLENGES IN ADULTHOOD Spectr um Intellectual and Functional Abilities in Adults with FASD Can vary from global intellectual delay to average intelligence with limited areas of disability (depending on the factors around exposure) Scattered Profile – can have great long term memory and poor short term (which can lead people to assuming they are being defiant) Executive functioning – children can be less obvious because their parents do a lot of this? What happens to an adult? Can often be labeled with ODD, conduct disorder or antisocial personality disorder Daily Living Skills – may have problems “applying” their  Mental Health High risk for mental health problems Intellectual Disability + Mental Health problem = dual diagnosis Mood disorders Personality Disorders Substance use disorders Suicide attempts  Interventions and Supports Organizational and structured activities Strong community supports for activities and case management (PGT, SDM, CLDS) – “external brain” Counselling Behavior therapy Pharmacological intervention can support sx of dual diagnosis  W H AT I S E P I L E P S Y       Onse t May occur at anytime in a person’s life Usually before age Frequenc 15 SEIZUR y varies with each patient ES Classes Generalized (Absence seizure or Tonic-Clonic) Partial seizure (simple or complex)  EPILEPTIC SYNDRO MES    C AU S E S O F E P I L E P S Y  EPILEPSY T R E AT M ENT  Seizure related problems – personal safety, driving, jobs, economic and social discrimination Risk of DISABLIN injury G AFFEC T OF SEI ZURES Can not legally drive Risk of isolation C OMORBIDITIES OF INTR AC TA B L E E P I L E P S Y IN CHILDREN  C OG NITIVE I M PA I R MENT        Emotional and behavioral challenges are disproportionately high 20-60% are at risk for P S YC H O S O C I psychopathology AL PROBLE Anxiety, depression, irritability, MS aggression, irrational rage –often unresponsive to therapy Compounded by the side effects of drugs (most commonly with benzo’s and barbituates)  C HILDREN WITH EPILEPSY A N D T H E I R F A M I LY      C HILDREN WITH EPILEPSY AND SC HOOL   1. 2. 3. 4. 5  C OMORBIDITIES OF I N T R AC TA B L E EPILEPSY IN A D U LT S     Specialized units/treatment centers for uncontrolled seizures (HSC) Patient support and advocacy SUPPORTIN groups G PEOPLE WITH EPILE PSY Working with employment centers Continue to develop new treatments and medications