Fragile X Syndrome Fragile x syndrome is characterised by large ears, velvety skin, flat feet, testicular enlargement after puberty, speech “cluttered” attentional deficit, hand flapping. Autistic traits. CGG repeats over two hundred. Support –MDT. Speech and language, physio, psychological techniques for teachers/parents, look at educational needs. family support –carers' assessment. Genetic Aberration A mutation on the X chromosome at the Xq27.3 site.  Fragile-X mental retardation -1 Gene FMR1 is a human gene that codes for a protein called Fragile-X mental retardation protein (FMRP) that may help regulate synaptic plasticity, important for learning and memory.  Prevalence 1 of every 1,000 males 1 of every 2,000 females Intellectual disability Mild to severe. Eighty per cent of boys with fragile X syndrome have an intelligence quotient lower than 80. Co-morbidities Attention deficit hyperactivity, learning disorders, autism spectrum disorders Physical Features long face, long ear

Postnatal Causes of Learning Disability (Intellectual Disability) Postnatal causes of learning or intellectual disability include head injury, infections, neurodegeneration, and toxicities. A study on the causes of developmental disability found bacterial meningitis, child battering, vehicle-related injuries, and otitis media as the most common causes. However, a developmental disability is a broader term that can include motor developmental disabilities too. The results still give us an idea as this overlap heavily with causes of pure intellectual disability. See Table 1. Table 1: Most Common Causes of Developmental Disability Bacterial meningitis 31% Child battering 15% Motor-vehicle- related injuries 11% Otitis media 11% Postnatal causes of developmental disabilities in children aged 3-10 years -- Atlanta, Georgia, 1991. MMWR Morb Mortal Wkly Rep 1996 Feb 16 45 13

Tuberous Sclerosis Tuberous sclerosis (epiloia) has an Autosomal dominant inheritance pattern. Clinical features include Epilepsy, adenoma sebaceous on the face, white skin patches, shagreen skin, retinal phakoma, subungual fibromata, multiple renal, and other tumors. ID usually is Mild. Autism and other psychiatric disorders are common.

Components of the Positive behavior support (PBS) System change Environmental alterations Skill intrusion—teaching the student alternative behaviors Behavioral consequences

Functional communicative training: Teaching children to ask for what he/she wants through language instead of problem behavior.

The discrete trial format: It is one to one, Short and clear instructions, Planned, uses prompting and prompt fading, reinforcement.

The 1960s psychoanalytic approach to children with autism: Base on Lovaas- socialization study Building social behavior in children with autism by use of electric shock. Method- use of identical twins: Tell them to come here and shock them until they move toward the experimenter. They based applied behavior analysis on it, supported by decades of research behind the Lovaas approach and more if you include the research into Skinner's theories, on which they base it. Predictors of response Early: better the outcome in younger children.  Intensive more sessions per week.  Duration: longer duration of therapy.  With Parents: Children accompanied by parents in therapy do better.

Most Common Malignancy  in Down's Syndrome The most common Malignancy in Downs Syndrome is Leukemia. Please read the topic on Down's Syndrome in the Shorter Oxford Textbook of Psychiatry, 7th Edition. 

3 FIRM HELLs 1 n in 3000 Facial asymetry Irritability Microcepahlly, mild to moderate MR Hyperactivity Ears being low set Upper Lip deformity