CASEMarrie at 24 months presented with severe deficits with social-emotionalengagement, ignoring communication attempts by others and closingcircles of communication with avoidance and by increasing physicaldistance from others.Socially/emotionally, marrie was easily overwhelmed, was frustrated bydaily activities, did not transition smoothly from one activity to another,lacked confidence with new environments and new tasks, lackedindependence, was “needy,” had low self-esteem, and was impulsive. Shehad poor short term memory, could not sequence tasks, and often failed tobegin or to complete tasks or projects unless assistance was provided.She had difficulty finding clothes and getting dressed in the morning andpreferred to avoid planning due to difficulty with tasks.Doctors noticed following areas of concern for diagnosis:echolalia, poorlanguage skills, fine and gross motor skill delays, delayed self-care skills,visual perceptual deficits, sensory integration dysfunction, auditoryprocessing weaknesses and oral dysphagia.
IntroductionAutism is a developmental disorder that appears in the first 3 years of life, and affects the brains normal development of social and communication skills• Characterised by impairment in: – Communication – Language – Motor skills – Speech – Thinking Abilities – Reciprocity
Etiology• Multiple genes - 2q, 7q31-35, 15q11-13,16p11.2, ...• Broader clinical phenotype suggested by• heterogeneity and family associations• CONCORDANCE RATE IN -• Identical twins - 60% - 90%• Fraternal twins – 0 - 36%; sibs 4% - 10%• Higher incidence of Major Depression, Social• Phobia and Bipolar Disorder
EtiologyAutism 4 to 8 times more common in males. Strong X - linked association.• Features of autism seen in Prader-Willi syndrome, Angelman syndrome.Neuroanatomic findings- abnormal brain growthPrenatal or earlypostnatal exposure to viralinfections (rubella), valproic acid,thalidomideProposed: Influence of mercury,lead, elevated copper/zinc ratio;lack of vitamin D, vaccines, radiation
Symptoms of children with autism Communication Social relationships• Avoid eye contact• Act as if deaf • Act as if unaware of the coming and going of others• Develop language, then abruptly stop talking • Are inaccessible, as if in a shell• Fail to use spoken language, withoutcompensating by gesture • Fail to seek comfort • Fail to develop relationships with peers • Have problems seeing things from another person’s perspective, leaving the child unable to predict or understand other people’s actions Exploration of Environment • Physically attack and injure others without provocation• Remain fixated on a single item or activity• Practice strange actions like rocking or hand-flapping• Sniff or lick toys• Show no sensitivity to burns or bruises, and engage in self-mutilation• Are intensely preoccupied with a single subject, activity or gesture• Show distress over change• Insist on routine or rituals with no purpose• Lack fear
Warning signs language + social delay• Aberrant social skill is hallmark of ASD: – Abnormal eye contact – Failure to orient to name – Unable to gesture for pointing or showing – Lack of interest in social play – Failure to smile – Lack of sharing – Lack of interest in other children
• Early signs: – Loss of language skills – Inability to adapt to new settings – Lack of imitation – Absence of imaginary play – Deviation of social and emotional devleopment: • ↓ eye contact • Failure to orient to name To be detected by • Lack of joint attention 1 year• Late signs : – Odd or stereotypical behaviour
Screening tools• The Checklist for Autism in Toddlers (CHAT) – 18 month old children in primary care settings – Combines parent responses and direct observation of child – Poor sensitivity• The Modified Checklist for Autism in Toddlers (M-CHAT) – 23 item parent questionnaire – Good sensitivity and specificity = good screening tool• The Pervasive Developmental Disorders Screening Test (PDDST) – Survey for parents of children 0-3 years – All tiers have aspects of language, social skills, pretend play, motor and sensory stereotypes – 3 tier approach • 1 – primary care clinic • 1 – developmental clinic • 1 – multidisciplinary autism clinic
• Evaluate: – Physical examination head circumference 25 % (macrocephaly) – Examination of skin with woodlamp for tuberous sclerosis – Fragile X syndrome (long face, large ears, large testes) – changes in FMR1 gene – Angelman syndrome (broad mouth, ataxic gate) – Audiologic tests (language delay) – Lead level (signs of pica) – Chromosomal analysis
TreatmentFor young children:• Intensive behavioral therapy beginning before 3 years• Focus on speech and language development• 40h/wk of intensive 1:1 training for 2 years (applied behavioral analysis)• Deals with acquiring: – Compliant behaviour – Social interaction• Pharmacotherapy needed for some psychiatric target symptoms
• Education models such as TEACCH needed• Treatment and Education of Autistic and Related Communication handicapped Children (TEACCH) emphasises on: – Behaviour and behvioural changes (CARS) – Enhancing skills – Use of visual stimuli while working – Multidisciplinary training for teachers
• Older children and adolescents: – High intellect + poor social skills + psychiatric symptoms – Psychotherapy, pharmacotherapy & behvioural or cognitive behavioral therapy needed – Behavioral modification (main) • Enhancement (rewards) • Reduction (punishment / time out) – Social skill training also done
• Psychiatric symptoms dealt with pharmacotherapy• Hyperactivity, physical agression, self injurious behaviour, sterotypies, anxiety symptoms, OCD’s• Atypical neuroleptics (riperidone, olanzapine)• SSRI + clonidine – SSRI for hyperactivity and OCD• Clomipramine (stereotypies + compulsions) – Agranulocytosis and cardiotoxicity
Outcome of patients with Autism• Children with better communicative abilities live self sufficient , yet isolated lives• Dependence on family members• Children with poorer profiles, higher predisposition for seizures , self injurious and abusive behaviour common.
• Patients have a qualitative impairment in the development of reciprocal social interaction, often showing repetitive behaviours and restricted, obsessional and pragmatic aspects of communicatation.• Language impairment not as severe as autism. High functioning autism.• Lack of nonverbal communicative skills.
• Normal language milestones• Prevalence is estimated to be approximately 11/10,000 children.• At risk of developing psychiatric disorders.• Group social skill training hallmark of intervention
Savant syndrome• Savant syndrome is a rare, but extraordinary, condition in which persons with serious mental disabilities, including autistic disorder, have some island of genius which stands in marked, incongruous contrast to overall handicap. As many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees,
RETTS SYNDROMERett syndrome is a neurological and developmental disorderthat mostly occurs in females. Infants with Rett syndromeseem to grow and develop normally at first, but then stopdeveloping and even lose skills and abilities.For instance, they stop talking even though they used to saycertain words. They lose their ability to walk properly. Theystop using their hands to do things and often developstereotyped hand movements, such as wringing, clapping, orpatting their hands.Rett syndrome is considered one of the autism spectrumdisorders. Most cases of Rett syndrome are caused by amutation on the MECP2 gene, which is found on the Xchromosome.