Mental Retardation & Pervasive Developmental Disorder Objectives 13 October, 2004 – Dr. Ghuman 1. Some children do not acquire verbal and social skills at the expected age. Reasons for this delay are mental retardation (Down’s, Fragile X, etc - below) and pervasive developmental disorders (PDDs). PDD is characterized by the failure to acquire, or early loss of reciprocal social interactions and communication skills, e.g. language despite normal hearing. PDD children show a restricted range of interests and repetitive behaviors, in addition to motor control problems. PDDs are not reversible. a. Autism is the prototype PDD. Symptoms are usually seen before age 3 and include socialization deficits and problems with language. They generally show resistance to changes in routines. They do not spontaneously seek to share enjoyment. Some children (very rare) show savant skills, i.e. unusual memory or calculation skills. It affects 17/10,000 births and is 4-5 times higher in boys, but girls often have more severe symptoms. Etiology believed to be biological with neuroanatomic and neurochemical changes. There is also a strong genetic component, with monozygotic twins having 3 times higher rate than dizygotic twins. Recent studies have shown no childhood immunization – autism link (study of 640k children). b. Asperger’s disorder appears to be a mild form of autism, as in the child has significant problems forming social relationships and engages in repetitive behavior. It differs from autism in that there is normal cognitive development and little language delay (although conversational skills are diminished). Often show obsessive traits in memorization of objects or events, i.e. brands of lawn mowers or names of WWII battles. c. Rett’s disorder involves diminished social, verbal, and cognitive skills following approx. 4 years of normal development. Stereotypical hand wringing movements, mental retardation, and ataxia are common. Motor skills progressively worsen, while social skills improve. X-linked trait and most boys do not survive, therefore mostly seen in girls. d. Childhood Disintegrative disorder is a rare condition with diminished social, verbal, cognitive, and motor development after 2-10 years of normal functioning. More common in boys e. PPD Not otherwise specified 2. Children who do not reach cognitive milestones and the intellectual functioning is significantly below that for their expected age and their ability to function is impaired, the child may be classified as mentally retarded. Symptoms of MR can vary, including ranges in IQ and cognitive functioning. Mental retardation has biological (Down’s & FXS) and environmental causes. a. Down’s syndrome results most commonly from a trisomy in chromosome 21, and other non- disjunction events. Symptoms include single palmar transverse (simian) crease, protruding tongue, small ears, and flat faces. Occurs equally in boys/girls and in 1/600 births (more frequently in maternal age > 40 b. Fragile X Syndrome (FXS) involves chromosome 27 fragility. Present in both sexes, but affects boys more severely. Cognitive functions delayed and behavior problems, e.g. hyperactivity, and stereotypic movements. c. Metabolic factors – phenylketonuria d. Brain formation – anencephaly, spina bifida, hydrocephalus. e. Infections (pre/post natal) – Herpes, HIV, rubella, toxoplasmosis, measles, malaria. 3. Medical assessment involves evaluation of genetic conditions, evolution of symptoms, hearing and visual screening with neurological assessments. Individualized adequate and appropriate support for patients. Educational services include speech therapy, education planning, and specialized classroom environments. Structured programs and extension of education past 21years old. 4. Impact of MR or autism on families is significant and devastating, therefore it is important to education parents on expected behaviors. Parents should be involved in management and treatment as co-therapists. Parents need support for guilt, denial, and frustrations throughout progression of symptoms. 5. There are several programs and agencies nationally and locally that offer support for MR and autistic parents and patients. Many offer respite care, help in securing educational opportunities, and offer supervised care and supervised employment opportunities. a. Defeat Autism Now (DAN) - http://www.autismwebsite.com/ari/dan/ b. National Institute of Child Health & Human Development - http://www.nichd.nih.gov/ c. National Autistic Society (UK) - http://www.nas.org.uk/ d. Arizona Division of Developmental Disabilities - http://www.de.state.az.us/ddd/

Other objectives restate previous questions or refer to the next section (Learning Disorders).