SCO230 Chapter 2: Developmental, Congenital, and Childhood Diseases and Disorders PDF

Developmental, Chapter 2 Sco 230 congenital, and childhood Sandra Ribeiro, PT, diseases and disorders DPT, MSEd. Pediatric Pathology Developmental and Congenital Disorder Prenatal Diagnosis Genetic Syndrome Prematurity Musculoskeletal Conditions Neuro...

Developmental, Chapter 2 Sco 230 congenital, and childhood Sandra Ribeiro, PT, diseases and disorders DPT, MSEd. Pediatric Pathology Developmental and Congenital Disorder Prenatal Diagnosis Genetic Syndrome Prematurity Musculoskeletal Conditions Neurological Diseases Metabolic/Endocrine Diseases Childhood Diseases Infections Respiratory Blood ttps://www.mayoclinic.org/diseases-conditions/cleft-palate/symptoms-causes  Normal Development Perinatal: the period immediately before and after birth Depending on the definition - starts at the 20th to 28th week of gestation and ends 1 to 4 weeks after birth. Normal Body System development and function 4  Normal Development Postnatal (neonatal period – postpartum period): the period beginning immediately after the birth of a child and extending for about four to six weeks. This is a time of increased risk for the child and mother. Mothers and their newborn babies are at highest risk of dying during the early neonatal period, especially in the first 24 hours following birth and over the first seven days after delivery 5  Normal Development Each chromosome is made of a single molecule of DNA: Human body cells contain 46 distinctively human chromosomes- 23 chromosomes from each parent. DNA is the genetic material that is found in all human cells and transmits information from one generation to generation. Autosomal Dominant: The parent who carries the abnormal gene will have 50% chance of passing it to child. Autosomal Recessive: The parent who carries the abnormal gene will have 25% chance of passing it to child. Sex Linked: Passed down through one of the X or Y chromosomes. hemophilia and Duchenne muscular dystrophy occur from a recessive gene on the X chromosome. If the father has the disease and the mother is not a carrier, the expected outcomes are: 100% chance of a healthy boy, 00% chance of a carrier girl without disease In-utero= Gestational Period: 40 weeks full term First 2 months: Embryonic Period Ectoderm (Neural tube), Endoderm, and Mesoderm Then: Fetus Prenatal: before birth Trimesters= 3 (12-14 weeks) Perinatal: During Birth Post-Natal: After birth 1st Trimester: Conception-12-14 weeks gestational period (3 months) Folic Acid- to prevent Neural Tube Defects Organ Development Hormone changes and increased HR, fatigue, morning sickness Risk of Miscarriage Health choices important: (alcohol, tobacco, medications, home/personal safe choices) Embryonic Development Neural Tube Development 2nd Trimester: 13-17 weeks gestational period Fetus moves Screening Tests : Prenatal Ultrasound: Identify spine and skull abnormalities Amniocentesis: amniotic fluid sample testing chromosomal abnormalities and fetal infection or abnormal substances Gestational Diabetes: affect the baby (jaundice, pre-  Is amniocentesis a safe procedure? What congenital problems can be diagnosed with amniocentesis? Amniocentesis is the most accurate way to determine the baby's gender before birth. Can less invasive tests provide the same results? 3rd trimester: 28 weeks to birth Surfactant: mixture of specific lipids, proteins and carbohydrates, which is produced in the lungs by type II alveolar epithelial cells Check mother’s blood pressure (Preeclampsia-life threatening to mother): https://youtu.be/RB5s85xDshA Listen to the fetal heart rate Measure the approximate length of your uterus Check your hands and legs for any swelling Screen for bacteria: Group B streptococcus (GBS) which can pose a serious threat to newborns if it’s passed during your deliver. Need antibiotics. Doctor will determine the baby's position and check your cervix. Effacement: thinner cervix as stretches Four types of genetic disorders (inherited)? 1. Single gene inheritance-Changes or mutations that occur in the DNA sequence of a single gene 2. Multifactorial inheritance 3. Chromosome abnormalities 4. Mitochondrial inheritance 1. Single gene inheritance-Changes or mutations that occur in the DNA sequence of a single gene A. Autosomal dominant inheritance, in which only one copy of a defective gene (from either parent) is necessary to cause the condition Marfan syndrome -Huntington's disease Optic atrophy type 1 - Neurofibromatosis type I B. Autosomal recessive inheritance in which two copies of a defective gene (one from each parent) are necessary to cause the condition Tay-Sachs disease -Cystic fibrosis Phenylketonuria (PKU) -Congenital adrenal hyperplasia Sickle-cell anemia C. X-linked inheritance: mutations of gene on X-chromosome leads to expression of the abnormal protein: ( can be Dominant or Recessive) Fragile X syndrome -Hemophilia Types: Multifactorial inheritance Multifactorial inheritance is also called complex or polygenic inheritance. Multifactorial inheritance disorders are caused by a combination of environmental factors and mutations in multiple genes. Multifactorial inheritance also is associated with heritable traits such as fingerprint patterns, height, eye color, and skin color. ∙ Autism ∙ Diabetes mellitus ∙ Cancers ∙ Hypothyroidism ∙ Alzheimer's disease ∙ Schizophrenia ∙ Osteoporosis ∙ Cardiovascular conditions ∙ Iron-deficiency anemia  Chromosomes, Types: Chromosome Disorders distinct structures made up of DNA and protein, are located in the nucleus of each cell. Abnormalities in chromosomes typically occur due to a problem with cell division. May also occur with chromosomal translocation in which portions of two chromosomes are exchanged. Cri-du-Chat (5 p deletion- chromosome 5) Patau syndrome (trisomy 13) Down's syndrome (trisomy 21) Edwards syndrome (trisomy 18) Williams syndrome (WS) (deletion 7q.11.23) Smith-Magenis syndrome (17p syndrome) Jacobsen syndrome (11q deletion  Genetic Syndromes and Conditions Down Syndrome Diagnosis: Genetic Syndrome due to full or partial Extra Copy of chromosome 21 Children with Down Syndrome have Trisomy 21, an extra chromosome 21 for a total of 47 chromosomes instead of 46 It occurs more commonly in infants born to mothers over age 35. Predisposition of errors in meiosis Environmental factors: virus, medical exposure, reproductive medications Most common cause of Intellectual Disability Occurs 1/800-1,000 births  Clinical signs (cont’d.) Loose skin folds at the back of the neck Congenital heart disease: Heart defects occur in about 50% of cases Eye defects occur in 60% of cases Hearing defects may occur and can affect speech and language Developmental delay (intellectual disability varies from mild to moderate) Secondary Complications: atlantoaxial instability, sensory, respiratory, umbilical hernia -Increased risk for Alzheimer’s disease, celiac disease, epilepsy, constipation, and musculoskeletal disorders  Clinical Signs Flattened nasal bridge Almond-shaped eyes (slant upwards) Abnormal shaped ears Simian line (palmar crease) Epicanthal folds (tiny folds inner eye corner Enlarged tongue/small mouth Low set ears Unusual looseness of joints Small white dots on the iris (Brushfield spots) Short hands and fingers Genetic Syndromes and Conditions Down Syndrome "intellectually challenged"  Genetic Syndromes and Conditions (Cont’d.) Down Syndrome Medical Management: Treatment may include corrective heart surgery and antibiotics for vulnerability to pulmonary disease. Rehabilitation therapists focus on the child's ability to master skills for independence. This can include: s Self care skills (feeding, dressing, grooming etc.) Gross motor skills, oral-motor School performance (e.g.: printing, cutting etc.) Play and leisure skills – ambulation, running Functional exercises and strengthening: Hypotonia Genetic Syndromes and Conditions (Cont’d.) Down Syndrome 60 Coronary heart disease (CHD) Atlantoaxial instability (AAI) - Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or ligamentous abnormality Genetic Syndromes and Conditions (Cont’d.) Muscular Dystrophy A genetic disease: X-linked recessive trait ONLY in male- females are carriers A progressive neuromuscular degenerative disorder: weakness or voluntary muscle degeneration (fat and connective tissue replaces muscle) Occurs in 1 out of 3,600 male infants Defective gene for dystrophin (a protein in the muscles needed for muscle function) lack any functional dystrophin protein suffer from Duchenne muscular dystrophy. mutated, but semi-functional dystrophin protein have the less severe Becker’s muscular dystrophy.  Genetic Syndromes and Conditions There are 9 forms of MD: (Cont’d.) 1. Myotonic, 2. Duchenne, 3. Becker 4. Limb-girdle 5. Facioscapulohumeral 6. Congenital, 7.Oculopharyngeal 8.Distal 9. Emery-Dreifuss  Muscular Dystrophy (Cont’d.) Clinical Presentation/Symptoms: usually appear before age 6 and may appear as early as infancy. They may include: Muscle weakness - progressive muscle weakness and wasting (atrophy) – Proximal muscle weakness: pelvis and legs (occurs less severely in the arms, neck, and other areas of the body): Excessive lordosis to attempt to keep posture – Waddling gait, toe walking, pseudohypertrophy of the calf – Difficulty with motor skills: running, hopping, jumping – Frequent falls – Trouble getting up from a lying position or climbing stairs – Weakness quickly gets worse Progressive difficulty walking – Ability to walk may be lost by age 12, and the child will have to use a wheelchair – Breathing difficulties and heart disease usually start by age 20 Fatigue Learning difficulties (the IQ can be below 75) Intellectual disability (possible, but does not get worse over time) Muscular Dystrophy (Cont’d.) Diagnosis of MD Family history: interview Muscle biopsy Electromyography (EMG): Blood test: elevated serum level of creatine kinase (CK) Medication: Corticosteroid: to slow down muscle degeneration Prognosis: Duchenne MD is poor wheelchair by 9-12 years Cardiac and respiratory complications within 10-15 years from onset Mild forms: grow to early adulthood with mild disability  Muscular Dystrophy (Cont’d.) Rehabilitation Different types of rehabilitation needed through life delivered mainly by OTs and PTs, but others may be involved – Rehabilitation specialists-Respiratory care – Orthotists – Providers of wheelchairs/other seating – (Potentially) orthopaedic surgeons Key Focus of REHAB: management of muscle extension and joint contractures – Stretching, braces, splints Stretching aims to preserve function and maintain comfort Abnormal Congenital Development Present at birth or detected later in infancy organs or limbs may be malformed, duplicated, or absent with or without mental anomalies Causes: Genetic, nongenetic, or combination Examples: Cardiac Musculoskeltal: Cleft, developmental hip dysplasia, cleft palate  Abnormal congenital Developmental Non- Genetic Conditions During Pregnancy That Affect The Baby Certain illnesses during pregnancy, particularly during the first nine weeks, can cause serious congenital abnormalities (e.g. maternal infections such chicken pox or rubella). Chronic maternal conditions (e.g. diabetes, hypertension, autoimmune diseases such as lupus) can negatively affect the developing fetus. Maternal hypertension can affect blood flow to the fetus impair fetal growth. Alcohol consumption, smoking and certain drugs during pregnancy significantly increase the risk that a baby will be born with abnormalities (e.g. fetal alcohol spectrum disorders). Diet - Eating raw or uncooked foods during pregnancy can also be dangerous to health of the mother and fetus and should be avoided. Certain medications, if taken during pregnancy, also can cause permanent damage to the fetus, as can certain chemicals that can pollute air, water, and food. What is Microcephaly? Zika  Diseases of the Nervous System Divisions of the Nervous System – 2 parts Central Nervous System (CNS) The brain and spinal cord together form the central nervous system, The nervous system's main function is to control the operation and movements of the body based on the sensory information it gathers, both internally and externally. The Central Nervous System functions include: * To maintain consciousness * To help respond to body senses * To help coordinate what you sense and feel * To allow learning and memory * To control other body systems * Maintain the body’s homeostasis and ensure its survival Peripheral Nervous System The peripheral nervous system (PNS) includes all of the parts of the nervous system outside of the brain and spinal cord. These parts include all of the cranial and spinal nerves, ganglia, and sensory receptors.  Diseases of the Nervous System The peripheral nervous system There are two major parts to the peripheral nervous system. 1. The somatic system: sends sensory information to the central nervous system through peripheral nerve fibers. Sensory means that it sends the information coming from all your senses, touch, vision, hearing, taste, smell and position. sends messages to motor nerve fibers to get the muscles to move the body. 2. The autonomic system is responsible for making sure that all the automatic things that your body needs to do to keep you going, like breathing, digesting etc. continue working smoothly without your having to think about them. (How hard would it be to have to keep thinking, "Breathe in, breathe out," or "Start digesting the food stomach!")  Diseases of the Nervous System: Cerebral Palsy Non-progressive: Diagnosed with history, neurological evaluation, observation Diagnosis: shortly after birth, most children diagnosed within the first two years. In mild cases, diagnosis may not be made until a child reaches three to five years of age, when the brain is fully developed. Acquired in utero, during birth, or infancy (immature higher brain centers) Due to lack of oxygen, maternal infections, drug or alcohol abuse prolonged/Breech labor, prematurity Postnatal factors: CVA, head trauma, neonatal infection, and brain tumor Umbrella term to describe movement disorders due to Brain Damage Decreased ability to monitor and control nerve and voluntary muscle activity  Diseases of the Nervous System Caus (Cont’d.) Cerebral es palsy is caused by an abnormality or disruption in brain development, usually before a child is born. In many cases, the exact trigger of this abnormality isn't known. Factors that may lead to problems with brain development include: Random mutations in genes that control brain development. Maternal infections that affect the developing fetus. Fetal stroke, a disruption of blood supply to the developing brain. Lack of oxygen to the brain (asphyxia) related to difficult labor or delivery. This is rarely a cause. Infant infections that cause inflammation in or Cerebral Palsy (CP): is a neuromuscular disorder of posture and controlled movement which depends on the extent and area of damage. Mild: Move without assistance and no impact in daily function Moderate: medications, braces/adaptive equipment or technology to walk and perform daily tasks, esp. when older Severe: confined to wheelchair and difficulty with daily tasks-need assistance The clinical presentation are as follows: muscle tone: high, low, or athetoid movement coordination balance Posture-mostly orthopedic in nature (high risk of hip  Cerebral Palsy The three types of CP are: 1. spastic cerebral palsy — causes stiffness and movement difficulties Spastic cerebral palsy (pyramidal) - Children with this form of cerebral palsy will have increased muscle tone. May be called hypertonic cerebral palsy and results in very stiff limbs. Spastic cerebral palsy is sometimes named in conjunction with the limbs affected by the condition. Spastic diplegia, for instance, is cerebral palsy that affects the lower limbs. Spastic hemiparesis affects one side of the body, but not the other, while spastic quadriplegia affects all four limbs. Cerebral Palsy-The three types of CP cont’d. Video: The three types of CP  Diseases of the Nervous System (Cont’d.) Spastic cerebral palsy (70 percent of cases); athetoid cerebral palsy (20 percent of cases); and ataxic cerebral palsy (10 percent of cases). A child may show signs of all three types in varying degrees. Some patients have related complications such as seizures and sensory deficits. Long-term treatment may include speech and physical therapy, orthopedic intervention, and even corrective surgery. More common in males and premature infants Reinforce to parents that there is no known cure for cerebral palsy and help them  Cerebral Palsy-The three types of CP cont’d. 2. athetoid (dyskinetic)cerebral palsy — leads to involuntary and uncontrolled movements (“wormlike”) The child will have uncontrolled, slow, twisting movement of the limbs. Sometimes the muscles of the face, tongue and throat are affected, causing grimacing or drooling. Uncontrolled movements often increase during periods of emotional stress and are not present while sleeping. https://youtu.be/8DLcS6fx_WI  Cerebral Palsy-The three types of CP cont’d. 2. athetoid (dyskinetic ) cerebral palsy — Cont’d Athetoid cerebral palsy child often has a hard time maintaining posture which makes sitting or standing difficult. Additionally, Children with athetoid CP can have a difficult time moving their hands to a certain spot or holding on to objects. https://youtu.be/IyrN2U62nHs Cerebral Palsy-The three types of CP cont’d. 3. ataxic cerebral palsy — causes a disturbed sense of balance and depth perception -caused by damage to the cerebellum (The control center for balance and coordination and coordinates the actions for different groups of muscles) Ataxic children will often have poor coordination and walk unsteadily with a wide-based gait, placing their feet unusually far apart. They have difficulty with quick or precise movements, such as writing or buttoning a shirt. It is also common to have low muscle tone (hypotonic) and difficulty with visual or auditory processing. Children with this type of cerebral palsy may also have intention tremor, in which a voluntary movement, such as reaching for a book, is accompanied by trembling that gets worse the closer their hand gets to the object. https://youtu.be/mpSkYQmCRWs Cerebral Palsy Rehabilitation: Long- term Rehabilitation The type and degree of the CP will determine which forms of therapy are most necessary physical (gross motor skills), occupational (fine motor skills), and speech therapy (oral motor skills) Exercises will usually involve extending the child’s range of movement and often concentrate primarily on developing basic motor skills. The OT / PT will recommend external aids such as wheelchairs, walkers, braces, and how to use them for maximum mobility in navigating the environment Cerebral Palsy Rehabilitation: Long-term Rehabilitation Walkers are helpful for those children who have more significant balance difficulties and need more support than a brace can provide. Wheelchairs are useful for those children who are not able to walk independently at all or for those children who have some walking ability but tire easily and need a wheelchair for longer distances. Splints and bracing that can help a child use his/her hands and extremities Adaptive Equipment - utensils for eating with Special handles or grips, Communication Aids Other treatments are available that can help improve the child’s muscle tone and lessen the effects of the CP. Exercises will usually involve extending the child’s range Cerebral Palsy Rehabilitation: Long-term Rehabilitation Adaptive Standers- Devices that give the child the opportunity to actively and dynamically bear weight in a safe and supported manner  Combination of Genetic and Non-Genetic Problems What is Spina bifida?  Combination of Genetic and Non-Genetic Problems: Spina Bifida Spina bifida is a condition in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord. If the sac contains part of the spinal cord and its protective covering, the abnormality is known as a myelomeningocele. If it does not, the abnormality is known as a meningocele. There is also a milder form of the condition called spina bifida occulta, in which the spinal column is abnormal but the nerves of the spinal cord do not stick out through an opening in the spine.  Spina Bifida Causes Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors.. A shortage (deficiency) of folate appears to play a significant role. Studies have shown that women who take supplements containing this vitamin before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with spina bifida or a related neural tube defect. Other possible risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early  Spina Bifida The signs and symptoms: range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Spina bifida occulta usually causes no health problems, rarely it can cause back pain or changes in bladder function Related problems can include: 1. Loss of feeling below the level of the opening 2. Weakness or paralysis of the feet or legs 3. Problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. Spina Bifida Rehabilitation – Treatment The most relevant factor in the rehabilitation of Spina Bifida is the location of the malformation. Individuals who had a higher wound in the thoracic and upper lumbar spine are more likely to have functional limitations and be in wheelchairs in comparison to those with lower lumbar and sacral malformations.  Spina Bifida Rehabilitation – Treatment Physical Therapy monitors joint alignment, muscle imbalances, muscle contractions, posture, and signs of gradually increasing neurologic deficits. – the use of braces, crutches or a walker in order to promote walking capability – ROM and Strengthening exercises due to muscle tightness and weakness in LEs – Balance activities due to trunk weakness for transfers and mobility – Family education Spina Bifida Rehabilitation – Treatment Occupational Therapy: monitors Upper- extremity stabilization and dexterous hand use which require proper postural control of the head and trunk. – Tx: motor skills development for conducting activities of daily living (ADL) – educate children in the use of adaptive instruments and other methods of self-care – Family education Anencephaly Most severe of neural tube defect (early gestation) Fetus or neonate does not have a cranial vault Little cerebral tissue Diagnosis: Ultrasound Blood test: elevated AFP level Prognosis: Poor due to lack of cerebral tissue to sustain life Hydrocephalus Etiology: Increased Cerebrospinal fluid (CSF) due to some blockage Increases the head or abnormal enlargement of head Signs and Symptoms: Fontanelles bulge Increased head circumference faster than normal high-pitched cry projectile vomiting neurological signs (abnormal muscle tone) Diagnosis: Clinical signs CT and MRI scans Hydrocephalus Treatment Surgical placement of a shunt in the ventricular or subarachnoid space to drain excessive CSF catheters empty into the peritoneal cavity and other empty into the right atrium of the heart Prognosis: Good Monitor and educate for malfunctioning shunts (any neurological changes)  Congenital Defects/Anomalies 1.Cardiac: Ventricular Septal defect Tetralogy of Fallot Transposition of Great Vessels Hypertrophic Cardiomyopathy (HCM) Complications: heart failure, -pulmonary hypertension endocarditis, -other cardiac problems: abnormal heart rhythm or valve 2.Musculoskeltal: https://youtu.be/aWAV-HjNpGA Cleft Palate Talipes Equinovarus or Clubfoot Developmental hip dysplasia Occurs the first three months of pregnancy https://www.mayoclinic.org/diseases-conditions/ventricular-septal-defect/symptoms-causes/syc-20353495  Congenital Anomalies cont. Developmental Hip Dysplasia (DDH) Abnormal Hip joint: dislocation of femoral head in the acetabulum Signs and Symptoms: asymmetric thigh folds limited abduction of the hip, shortening of the femur Diagnosis: Ortolani and Barlow maneuvers Treatment: Pavlik harness, splint, cast with hip in flexion and abduction. Early treatment best  Hypertrophic Cardiomyopathy (HCM) Congenital disorder portion of the heart thickens Can cause Sudden cardiac death (i.e. young athletes that look healthy) Signs & Symptoms Syncope (falling) during strenuous exercise due to cardiac arrhythmia heart palpitations & shortness of breath (SOB) Treatment: Arrhythmias: beta-blockers and calcium channel blockers Pacemaker or implantable cardioverter-defibrillator (ICD) Avoid strenuous exercise or situations  Prematurity and Causes: Exposure to toxic conditions, infections, trauma, hypertension Incomplete cervix: opens up earlier than expected (efface and dilate) Bicornuate uterus heart shaped and is the most common congenital uterine abnormality in the reproductive female system Multiple gestations (more than one fetus) Fetal growth retardation: fetus is not growing Premature membrane rupture (amniotic sac breaks) It is important for all women of reproductive age to adopt healthy behaviors such as—PREVENTIVE Taking folic acid Maintaining a healthy diet and weight Being physically active regularly Quitting tobacco use Not drinking excessive amounts of alcohol and using “street” drugs Talking to your health care provider about screening and proper management of chronic diseases Talking with your health care provider about taking any medications Visiting your health care provider at the recommended scheduled time periods for your age and discuss if or when you are considering becoming pregnant Using effective contraception correctly and consistently if you are sexually active, but wish to delay or avoid pregnancy. Preventing injuries and considering the safety of your home and family (e.g., wear seat belt, take CPR, install and test smoke alarms).  Prematurity (cont’d.) The death of a baby before his or her first birthday is called infant mortality. The infant mortality rate is an estimate of the number of infant deaths for every 1,000 live births This rate is used as an indicator to measure the health and well-being of a nation There are obvious differences in infant mortality by age, race, and ethnicity; for instance, the mortality rate for non-Hispanic black infants is more than twice that of non- Hispanic white infants USA ranks 36 in infant mortality rate (#1=Monaco, #2= Japan, #3= Singapore, #4= Sweden, #5= Iceland; Italy, France, Spain, Finland, Norway, …. Prematurity A premature infant is when the fetus (neonate) is born: Before 37 weeks or low weight (less than 5 lbs, 8 ounces) Incomplete development of organ systems High risk infant (neonate) Higher risk for Cerebral palsy (CP), chronic lung disease, GI problems, vision/hearing loss, developmental delays Neonatal Intensive Care Unit (NICU) Mother is injected with corticosteroid 12 hours before delivery to stimulate and speed up lung maturity in the developing baby for surfactant  Prematurity (cont’d.) Decreased subcutaneous fat and few creases in palms and soles Lacks the ability to suck or swallow Weakened swallowing and sucking reflexes Underdeveloped lungs and immune system Immature immune system Increased risk of infection Immature nervous system difficulty with regulating temperature, spontaneous episodes of apnea, or seizure  Prematurity Treatment- NICU Intravenous fluids (IV) and hyperalimentation (food) to encourage growth Respiratory support: vary depending on severity intubated (endotracheally) , continuous positive airway pressure (CPAP)-nose Pulsed oximeter: monitor oxygen and heart rate Body temperature monitored Antibiotics (as needed) Blood glucose: monitored  Concerns and Prognosis of Prematurity The smaller or younger the more possible complications 1% of neonate born at 22 and/or 12 ounces survive Cerebral bleed: high risk Cerebral Palsy and Neurological conitions labor and delivery, handling after birth, due to immature system Pulmonary system: possible develop Infant respiratory distress syndrome (IRDS), bronchopulmonary dysplasia (BPD) Necrotizing enterocolitis (NEC): reduces function of GI acute inflammatory process caused by ischemic necrosis of the mucosal lining in intestines Atrial septal Defect (ASD) - circulatory system did not  Infant Respiratory Distress Syndrome (IRDS) IRDS is more common in premature infants because their lungs aren't able to make enough surfactant. - Cause: Lungs of the neonate lacks surfactant needed to allow the alveoli to expand(Lungs are stiff and air sacs collapse 🡪emptying the lungs of air Neonate suffers acute hypoxemia due to infiltrates within the alveoli Improper lung expansion Potentially fatal lack of oxygen Inadequate gas exchange Diagnosis: history of prematurity IRDS Infant presents with, signs - increased respiratory efforts by the newborn - blood gas study - chest x-ray Treatment options: - mechanical support of ventilation - ventilator - drug therapy: aerosol infusion of an exogenous surfactant into the pulmonary tree via tube to provide artificial surfactant -pulse oximeter: blood oxygen monitor - CPAP: continuous positive airway pressure - Risk of cerebral bleed (development of Cerebral Palsy)  Retinopathy of Prematurity – (ROP) Occurs in premature low birth weight infants when there is an Incomplete growth of blood vessels in the retina of the eye – Occurs most often in infants born before 28 weeks of gestation – using excessively high levels of oxygen in incubators to save the lives of premature infant – No visible symptoms – Examination by ophthalmologist are usually performed at 4-6 weeks (scope to see the retina-back of the eye) – Mild forms resolve without treatment Child may have cross or wondering eyes (strabismus), lazy eyes (Amblyopia), Prematurity (cont’d) What is Retinopathy of Prematurity (Retrolental Fibroplasia) (ROP) ? Affects the blood vessels or vascular system of the retina No way of preventing this in Prematurity ▪Risk: High Oxygen concentrations ▪Drugs administered to treat immature lungs Metabolic Disorder Cystic Fibrosis Autosomal Recessive Chronic disorder-lacking the cystic fibrosis transmembrane conductance regulator (CFTR) Symptoms: dry cough, decreased exercise tolerance, fatigue Signs: pneumonia, bulky diarrhea, vomiting, bowel obstruction, increased concentration of salt in sweat The disorder causes fluids to thicken (sticky mucous) and block areas of the lung, GI tract, Pancreas, sweat glands so it is FATAL Prevention: high calorie, high sodium diet, fluid intake, antibiotics (lung infections), avoid pulmonary irritants, Metabolic Disorder Phenylketonuria (PKU) Inborn error in the metabolism of amino acids (enzyme defect needed to change AA or phenylalanine) into tyrosine Causes brain damage and Intellectual disability since it PKU accumulates in the blood and urine becoming toxic (not reversed) Screening: mandatory Signs/symptoms: musty smell in urine Inherited as an autosomal recessive train Diagnosis: blood test= positive Guthrie test Treatment: Phenylalanine free diet for entire life (protein restricted diet) Prognosis: good with diet restriction Endocrine Syndromes Klinefelter syndrome (XXY): male hypogonadism male- reduced testosterone, infertility Signs: long legs, above average height, reduced muscle, delays in learning and cognition Treatment: testosterone injection or dermal patch Turner syndrome (45 XO): female with immature of ovaries or absent Signs: lack of maturation, dwarfism, cardiac and kidney defects (prone to cardiovascular disease), delays in speech, cognition, and ambulation Treatment: estrogen and hormone therapy Blood Disorder Leukemia Most common childhood malignancy Abnormal increase number of immature WBC Increased bleeding time (Decrease platelet count) Sign/Symptoms: fever, easy bruising, palor, weakness, weight loss, and bone/joint pain Predisposing Factors: Down Syndrome and radiation exposure Diagnosis: lumbar puncture in the CNS Treatment: chemotherapy Late Adverse effects: CNS impairment, growth inhibition, and infertility  Diphtheri (Parotit a: is- Measl Mumps necrosis es- of mucous virus membran e of Childhood Pertuss is respirator y tract Diseases Whoopi ng (bacteria) Chickenpo Cough)- x (Zoster bacteri vaccine) a Asthma Rubella-Highly contagious virus (pregnancy-1st trimester, can develop congenital deformities Tetanus Sudden Infant Death Syndrome (SIDS) Prevalence: Boys > Girls https://youtu.be/QI3BtPnNoqk Unknown Cause: genetic susceptibility and environment SIDS confirmed with autopsy Treatment: Prevention with changes in the https://youtu.be/QI3BtPnNoqk SIDS Clinical Scenario A six-month-old boy with Down Syndrome is evaluated for Outpatient Th. Moderate hypotonia exists and child does not roll or sit with support. The child’s medical chart indicated atlantoaxial instability with minimal subluxation between C1 and C2. The boy’s parents are supportive but work full-time and are concerned about the competence of the daycare. What is the course of treatment?