Autism spectrum Disorder

Motee Ashhab, MD
Pediatric Neurologist
Assistant professor of pediatrics, ALQUDS University
Director of Neurophysiology Unit, Makassed Hospital
History
 The word "autism," was used for about 100 years, comes
from the Greek word "autos," meaning "self."
 Autism was first described by Leo Kanner in 1943
 Autism was often misdiagnosed as childhood
schizophrenia
 In 1944, Hans Asperger published a paper ‘‘autistic
psychopathy’’it was not widely read and did not enter the
English-speaking medical community until the 1970s
 From the 1960s - 1970s, Autism management?!!!
ASD :

 Major characteristics :

 Impairment in communication (speech and eye contact )

 Impairment in social interaction
 Stereotypic, repetitive behaviors, and restricted interests
Social behaviors that differentiate children with
ASD from typically developing children:

 Decreased attention to the voices of others

 The use of another's body as a tool
 Poor direct eyes following
 little to no interest in other children
 lack of seeking to share enjoyment with others
Stereotyped and repetitive behavior

 self-stimulatory behavior (e.g., repetitive finger

movements, gazing at lights, rocking, toe walking)
 stereotypical motor behavior (e.g., posturing)
 restrictive interest in objects or activities.
Impairment in communication
 50% of autistic patients do not develop spoken language
 individuals who develop expressive speech  Rote, repetitive and lacks
communicative meaning.
 Echolalia .
 When functional language does develop, pragmatic deficits often persist. include:
difficulties with ‘turn-taking’ in conversation, and preoccupation with one
conversational topic.
 The intonation of speech are also impaired in individuals with ASD. .
Asperger's disorder

( Mild Autism , high functional autism )

 “little professors,” tendency to fixate on topics of special interest.
the social and atypical behavior criteria are met without clinically
significant language delay
the individual may exhibit the profile of nonverbal learning disability
Terminology
Prevalence
 Most recent figures reported by CDC 1/67
Prevalence of autism spectrum disorder among children aged 8 years–autism and developmental disabilities monitoring network, 11 sites, United States,
2010. Morbidity and Mortality Weekly Report: Surveillance Summaries 2014, 63: 1–14.

 Increases in prevalence estimates may represent changes

in the concepts, definitions, service availability, and
awareness of ASDs

 ASD is 4 times higher in boys than in girls.

 Etiology
 To date, the specific causes of ASD remain unknown.
 Hypotheses have ranged from environmental, to Neurobiological
and Genetics.

It is estimated that 400–1000 genes are likely to lead to a susceptibility to autism
Genetics ?
 The epidemiology of autism spectrum disorders. Annu Rev Public Health
2007, 28: 235–258.
 Genetic architecture in autism spectrum disorder. Curr Opin Genet Devel
2012, 22: 229–237.
 Solving the autism puzzle a few pieces at a time. Neuron 2011, 70: 806–808.
 The role of de novo mutations in the genetics of autism spectrum disorders.
Nat Rev Genet 2014, 15: 133–141.
 Integrated model of de novo and inherited genetic variants yields greater
power to identify risk genes. PLoS Genetics 2013,
Etiology
 Neuroanatomical features that have been hypothesized
to be linked to ASD include:
 abnormal functioning of the brain stem, cortex,
cerebellum, hippocampus, and amygdala.
 some research has implicated neurotransmitter
abnormalities eg. serotonin and GABA levels in some with
ASD.
Differential diagnosis

 ADHD
 Psychomotor delay , intellectual disability
 Isolated expressive speech delay
 Sensory processing disorder
 Hearing problems
 Landau kleffner syndrome
Associations with
Syndromic Autism
 Chromosomal syndromes: Fragile X, Angelman syndrome, 15q
duplications, Down Syndrome, del22q11, Ring 20, Rett disorder
 Syndromes/associations without known chromosome anomalies:
Sotos, Smith-Lemli-Opitz, Moebius, CHARGE association, Joubert,
Congenital Myotonic Dystrophy
 Tuberous sclerosis, Neurofibromatosis
 Congenital and acquired infections: Rubella, cytomegalovirus
 In utero drug exposure: Thalidomide, valproic acid
 Inherited metabolic disorders: PKU, Disorders of purine metabolism
 Miscellaneous, including hypoxic-ischemic encephalopathy
Goals  — The overarching goals of treatment are to maximize
functioning, move the child toward independence, and improve the
quality of life.

Improve social functioning and play skills

Improve communication skills (both functional and spontaneous)

Improve adaptive skills

Decrease nonfunctional or negative behaviors

Promote academic functioning and cognition

 Specialist
involvement Team of providers who can monitor progress, provide
recommendations for behavioral programming, and screen for medical concerns.  

 Developmental pediatrician, child neurologist, child psychiatrist

 Psychologist or neuropsychologist
 Geneticist or genetics counselor
 Speech language pathologist
 Occupational therapist
 Audiologist
 Social worker
Core features of successful autism educational programs include :

 A high staff-to-student ratio (1:1 or 1:2)

 Individualized programming for each child
 Teachers with special expertise in working with children with autism
 A minimum of 25 hours per week of services
 Ongoing program evaluation and adjustment
 A curriculum emphasizing attention, imitation, communication, play, and social interaction
 A highly supportive teaching environment
 Predictability and structure
 Functional analysis of behavior problems
 Transition planning
 Family involvement
 Close monitoring and modification as the child's needs change
 Treatment
 There is agreement that behavioral approaches to comprehensive
intervention (behavior therapy, applied behavior analysis, cognitive-
behavior therapy) are the most effective.
 Meta-analysis of Early Intensive Behavioral Intervention for children with autism. J Clin Child Adolesc Psychol
2009, 38: 439–450.
 Behavioural and developmental interventions for autism spectrum disorder: a clinical systematic review. PLoS One
2008, 3: e3755.

 comprehensive intervention involving this approach for individuals with

severe needs can involve between 25 and 40 h a week of direct services.
 Its is associated with better outcomes and are more cost-effective.
 GFCF diet
 gluten-free/casein-free diet is also known as the GFCF diet.
 there is a little evidence to say whether this diet can be helpful or
not.

 The Gluten-Free/Casein-Free Diet: A Double-Blind Challenge Trial in Children with Autism

J Autism Dev Discord.  2016 Jan

 Nutritional and Dietary Interventions for Autism Spectrum Disorder: A Systematic Review.

Pediatrics.  2017 Jun
 Hyperbaric oxygen therapy for people
with autism spectrum disorder (ASD).
Cochrane Database Syst Rev. 2016 Oct

“To date, there is no evidence that hyperbaric oxygen therapy improves

core symptoms and associated symptoms of ASD.”
Psychopharmacologic interventions  — Psychotropic medications often are used in
children with ASD to treat targeted symptoms including:

 Hyperactivity, inattention, and impulsivity

 Aggression, outbursts, and self-injury
 Anxiety
 Obsessive compulsive behaviors, rigidity, and repetitive behaviors
 Depressive symptoms
 Sleep dysfunction
 Pharmacologic Treatment of Severe Irritability and Problem Behaviors in Autism: A Systematic
Review and Meta-analysis.
Pediatrics. 2016 Feb;

CONCLUSIONS:
risperidone and aripiprazole have the strongest evidence in reducing severe symptoms in patients with
ASD
 Prognosis
 ASDs tend to be lifelong conditions.
 Most optimal outcomes involve adults who lead happy, fulfilling
lives and maintain gainful employment despite eccentricities or
socially oddities.
 The prognosis of the condition appears to be improving for ASD,
with perhaps 15% or more now able to achieve adult independence
and self-sufficiency.
 Early and intensive intervention and mandates for school service
appear to be involved in improved overall prognosis.
Thank you….