Mental Retardation & Autism PDF

Mental Retardation (MR) Basma Abdelmoez Professor Of Pediatrics, Head of Pediatric Department Minia University Intelligence : Is a multifactorial mental process of : Thinking, Visual , Auditory, Memory, Verbal expression , and Spatial comprehension manipulative capacitie...

Mental Retardation (MR) Basma Abdelmoez Professor Of Pediatrics, Head of Pediatric Department Minia University Intelligence : Is a multifactorial mental process of : Thinking, Visual , Auditory, Memory, Verbal expression , and Spatial comprehension manipulative capacities. *Impaired intelligence from early life leads to inadequate mental development throughout growth period. Intelligence is usually expressed in terms of intelligence quotient(IQ). IQ= mental age x100/chronological age NORMAL IQ -90-110 Investigations: (In some cases no cause can be identified. 1- chromosomal study. 2- amino-acid in urine. 3- examinqtion for mucopolysaccharides disorders. 4- examinqtion for reducing substances in urine(Galactosemia). 5- urine ex. for ferric chloride test (phenylketonuria). 6-FreeT3 & FreeT4 &TSH (Hypothyroidism) 7- blood lead level. 8- skull -x-ray, brain CT, brain MRI and EEG. 9- ammonia blood level. 10- serum copper. 11- fundus examination. 12- serological investigations. 13- urine examination for keto-acids. 14- neuro-enzymes. 15- psychological studies. 16- audiometry.  Most common causes of M.R: 1 -Mongolism. 2-Cretinism 3-Phyenylketonuria 4-Prenatal anoxia. 5-Post-encephaletic and post-meningitic. 6-Congenital C.P 7-Hydrocephalus. 8-Microcephyaly.  Clinical picture and manifestations (developmental , educational, and social): Delayed achievement of developmental milestones is a cardinal symptom of mental retardation. * In infancy: The main clinical finding is delayed social development (delayed social smile, and delayed recognition of the mother) *In early childhood: The most important feature is delayed speech and it is usually associated with delayed sphincteric control *In late childhood: The main manifestations are school failure or underachievement and learning difficulties. Differential diagnosis: 1- Cerebral palsy: is a motor handicap. Many severely cerebral palsied children especially of the dystonic type have normal intelligence. 2- The deaf child shows lively visual interest and has development of other skills 3- Delayed speech development. 4- Emotional deprivation. 5- Childhood autism. Management of mental retardation: 1-Treatable condition: the specific therapy will prevent further impairment of mental abilities. a-Congenital hypothyroidism requires life long thyroid hormone. b-Galactosemia requires elimination of galactose from the diet c-Phenylketonuria requires elimination of phenylalanine from the diet 2-Intreatable conditions management is supportive: a-Treatment of associated problems e.g. epilepsy or hearing defect. b-education and training according to the degree of mental retardation. c-emotional support to the family. d-counseling the parents. e-institutionalization for the profoundly retarded children Some examples of MD  Congenital Hypothyrodism CLINICAL PICTURE Other Causes of Mental Disability  MPS Treatment 1-Aldurazyme™ (laronidase), an enzyme replacement therapy (ERT) 2- Hematopoietic stem cell transplantation (HSCT) increases survival, 3- Combined ERT and HSCT with severe MPS 4-Intrathecal ERT, injecting the enzyme into the spinal fluid, is a therapy currently under investigation for the treatment of cognitive decline in severe MPS I.  Autism Called infantile schizophrenia, Children locked within them selves Clinical presentation of autistic patients (core symptoms) 1) Impaired Social interactions:  Don`t make eye contact  Doesn`t respond to other people  Prefers playing alone  Lack of attention  Doesn`t like being touched  Treat others as objects  2) Impaired Communication skills  Doesn`t speak  Develops language skills slower than other 3)Restricted repetitive Behavior :  pre occupation with his hands  Displays repetitive behavior To diagnose : 1. Core symptoms 2. persistence of symptoms 3. onset before 3 Years 4. impairment in social, occupational, or other important areas of current functioning Prevalence : Male : female 4: 1 1 in 160 child Etiology : 1) Strong complex , unclear genetic basis → mutations 2) Teratogens : 1st 8 weeks of pregnancy 3) Environmental factors :  Maternal nutrition  Infection → rubella (MCQ)  Alcohol  Inflammation  Air pollution MMR vaccine not a cause language skills and social interactions DELAY are evident. child has delays in cognitive, language, and social skills if your child: -By 6 months he does not respond with a smile or a happy expression -Does not imitate sounds or facial expressions until 9 months -By 12 months he does not babble or growl -By 14 months, he does not make gestures - for example, point or wave -He won't say a word until 16 months -By 18 months, he does not play "pretend" or pretend -Does not say two-word phrases within 24 months Loses language or social skills at any age Diagnostic tools:  Autism diagnostic interview revised (ADIR)→ parent interview  Autism diagnostic observation schedule (ADOS)→ use observation & interaction with chil  Screening by M-charts.  Child autism rating scale (CARS) Investigations: (not routine)  Genetic testing: 71% have chromosomal abn.  Metabolic screening < 5%  Neuroimaging tests → structural brain abnormalities 1. Electrophysiology 2. Audiologic & visual evaluation Lead screening  3. prognosis :  No known cure  May recover depending on early intervention Management :Goals:  Lessen deficits & family distress  To ↑ quality of life & functional independence  Individualization & early intervention  Teamwork  Family involvement , behavioral therapy & educational system Prevention There is no way to prevent autism spectrum disorder, but there are treatment options. -Early diagnosis and intervention are very helpful and can improve behavior, skills, and language development. However, intervention is useful at any age. Although children usually do not outgrow the symptoms of autism spectrum disorder, they can learn to function well. Treatments for behavioral issues include -Early Start Denver Model (ESDM) -Occupational therapy -Relationship development intervention (RDI) -Speech therapy -Structured teaching through the TEACCH method or the SCERTS model These treatments focus on visual processing skills, fine motor skills, self-regulation, self-care skills, handwriting, developmental milestones, organization, executive functioning, and social skill Antipsychotic such as: Resperidone (rispadex) Fluoxetine Sulforaphane , antioxidants Anticholinesterase Oxytixin Experimental: gene function Non-medical ttt: cognitive behavioral therapy Attention-Deficit Hyperactivity Disorders (ADHD)  *(ADHD) is one of the most common neurodevelopment disorders that can result in abnormal levels of hyperactive and impulsive behaviours. *Generally diagnosed first in children and progresses into adulthood. * Individuals suffering from ADHD may have a problem focusing their attention on a single task  - About 1 in 10 children between ages 5- 17 years are diagnosed with ADHD. - The disorder is usually linked with problems at school -Boys are more likely to get an early ADHD diagnosis, trademark symptoms is hyperactivity. - Girls with ADHD, with daydreaming and hyper talkative than hyperactive.  Causes There is no clear cause for ADHD, however, recent studies show that genetics play a crucial role. Some of the causes and risk factors include: 1-Brain damage 2-Exposure to environmental toxins (lead) during pregnancy 3- Over abuse of alcohol and tobacco during pregnancy 4-Low birth weight infants 5- Premature babies * Some research suggests that a low level of dopamine is also a causative factor, where it is a chemical in the brain that transmit signals from one nerve to another, while also works to stimulate emotional responses and movements. Any structural difference in the brain where the grey matter volume is very minimal, the grey matter involves the brain areas that assist with: Speech Self-control Decision making Muscle control  Types Of ADHD I Predominantly Inattentive problems with concentrating, focussing, completing a task and following instructions. The person is easily distracted or forgets daily activities. miss out on a proper diagnosis because they generally, do not disturb the classroom session. This type is most commonly seen among girls. II Predominantly Hyperactive-Impulsive Type Mainly hyperactive and impulsive behaviour which include: Fidgeting as in the case of seizures Talkative , Smaller children may run, jump or climb continuously Restless and has problems with impulsivity Distracting people while they are talking Impatient not being able to wait for their turn Find it difficult to concentrate on daily tasks III Combined Hyperactive-Impulsive And Inattentive Type The most common, show both inattentive and hyperactive symptoms which include: Lack of attention An increased tendency toward impulsiveness High activity levels , Above normal energy levels DIAGNOSIS There is no specific test that can diagnose *Assessment the symptoms over the last six months and gather information from teachers, family members which they use as rating scales to review symptoms. *Complete physical examination to check for other issues. - The use guidelines found in the DSM-5-TR to help diagnose which states that if the child’s symptoms must occur in two or more settings (home, school and/or social situations) and cause dysfunction. -Child’s symptoms must considerably impair their ability to function in daily activities. -Symptoms must have started before they turned 12 years for at least six months. - After diagnosis the type of ADHD. assessment of behavior is critical (not just neuropsychological testing of attention), WHERE many children who are quite bright may perform well in school even while showing inattentive symptoms.  ADHD In Adults - It is observed that more than 60% of children with ADHD will show symptoms as adults BUT ADHD symptoms decrease as they get older. - Diagnosis as an adult, at least five of the symptoms associated with the condition & evidence that the condition started during childhood - Proper treatment is of utmost importance, as adults who had left untreated exhibits negative mpact on various aspects of life cause a lot of issues at work, home and in relationships. Treatment of ADHDed The goal of ADHD treatment is to improve symptoms so they can function more effectively at home and school. - For younger children (ages 4 and 5), providers recommend intervention for parents as the first line of treatment before medication is tried. -The best ADHD treatment for older children, adolescents and adults includes a combination of behavioral therapy and ADHD medication. Medication Stimulants:the most widely used ADHD medications. Between 70% and 80% of children show fewer symptom Nonstimulants: don’t work as fast as stimulants , don’t have as big impact, but their effect can last up to 24 h , the addition of a nonstimulant if stimulants aren’t working. Antidepressants: The FDA hasn’t approved antidepressants as a treatment for ADHD. But sometimes prescribe them alone or in combination with * Healthy behaviors include: -Eating a healthy diet full of fruits, vegetables, lean proteins and whole grains. -Exercising or participating in regular physical activity. -Limiting screen time. -Getting the recommended amount of sleep.  Prevention Can ADHD be prevented? Scientists believe genetics plays a major role in the development of ADHD. So, we can’t prevent the occurrence of the condition. But there are certain risk factors you may be able to avoid , During pregnancy , avoid toxins and substances; such as alcohol, tobacco and recreational drugs. Prognosis * With behavior therapy and/or medication, most children go on to live healthy lives. Without treatment, people with ADHD may experience poorer outcomes and lifelong complications..  Is ADHD a disability? Yes, the Americans with Disabilities Act (ADA) considers ADHD a developmental disability. The challenges is the difficulty for child perform daily activities and function efficiently at school. SO, MAY qualify for special education and/or modified instruction *In addition, learning disabilities (30% to 40% ) such as dyslexia and dyscalculia NEED special education services. Are there advantages to having ADHD? Yes, people with ADHD have many abilities and skills beyond those of people with neurotypical brains. ** These abilities and skills may include: Hyperfocus. Nonlinear thinking and problem-solving. Resiliency. Creativity. Conversational skills. Spontaneity. Ample energy.