15.6.1 Autism Sectrum Disorder

Question 1

Autism Spectrum Disorder
General

Answer 1

• ASD constitutes a diverse group of conditions related to development of the brain.
• Definitive diagnosis can be made from 24-36 months based on symptoms
• It is found across all racial, ethnic and social backgrounds
• Male to female ratio of 4:1
• Global estimate of 1 in 100
• In South Africa it is estimated that 2 % of our population

Question 2

What is autism?

Answer 2

Neurodevelopmental disorder characterised by deficits in:
1. Verbal and non-verbal communication
2. Social interaction
3. Stereotyped repetitive and restrictive behaviour

Question 3

DSM-5 criteria for ASD

Answer 3

Currently, or by history must meet criteria A,B,C and D:

A. Persistent deficits in social communication multiple contexts.
and social interaction across

B. Restricted, repetitive patterns of behavior, interests, or activities.

C. Symptoms must be present in the early developmental period

D. Symptoms cause clinically significant impairment

E. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.
- Certain conditions should be excluded (deafness)
• Specify current severity: Severity is based on social communication impairments and restricted repetitive patterns of behavior.

Question 4

A. Persistent deficits in social communication and social interaction

Answer 4

NEED ALL THREE FOR DIAGNOSIS

1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.

Question 5

B: Restrictive, repetitive patterns

Answer 5

NEED 2 / 4 FOR DIAGNOSIS

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat food every day).
3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interest).
4. Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).

Question 6

Severity levels for ASD

Answer 6

Level 3: Requiring very substantial support
- severe autism
- head banging
- still in nappies

Level 2: Requiring substantial support
- autism
- speech delay

Level 1: Requiring support
- high functioning autism

Question 7

Specifiers for ASD

Answer 7

• With or without accompanying intellectual impairment
• With or without accompanying language impairment
• Associated with another neurodevelopmental, mental, or behavioral disorder
• Associated with a known medical or genetic condition or environmental factor

Question 8

Red flags for ASD

Answer 8

• Any loss of speech or babbling or social skills. {normal babbling start at 6 months}
• Regression at any age is cause for immediate referral.
• Absence of Developmentally Expected Milestone Attainment
• Emergence of Aberrant Behaviors

Slide 22+23

Question 9

Pathophysiology and Etiology of ASD

Answer 9

Pathophysiology:
- Altered brain connectivity and modification of neuronal organisation in early brain development
- Brain neurotransmitters implicated in the onset and progression of ASD
- abnormal brain neurotransmitter (functional MRI will be different than normal child)

Etiology:
- Largelyunknown/multifactorial:Genetic, immunological, perinatal and neuroanatomical factors have been suggested to be contributing factors.

Question 10

Risk factors for ASD

Answer 10

• Strong genetic component as demonstrated by twin studies
• A child has an approximately 19% higher risk of autism if an older
  sibling is on the spectrum
• Health complications during pregnancy and in childbirth may raise a child’s autism risk significantly, a baby experiencing complications both during and before birth may have a 44% increased risk of autism.
• A growing body of evidence investigating maternal infection, drug use, toxins and age (there is also evidence linking advanced paternal age to an increased risk) as potential causes of autism and

Question 11

Genetic syndromes associated with ASD

Answer 11

• Tuberous sclerosis
• fragile X
• rett syndrome
• smith lemli opitz
• phenylketonuria
• neurofibromatosis 1
• myotonic dystropy
• sotos syndrome
• timothy syndrome
• cornelia de lange
• cohen syndrome

Question 12

Comorbidities associated with ASD

Answer 12

• Medical: epilepsy, sleep disorders and gastrointestinal problems
• Psychiatric: attention deficit hyperactivity disorder (ADHD), anxiety disorders, intellectual impairment or learning disorders, Obsessive compulsive disorder, depression, Schizophrenia, feeding issues.
• Social: increased levels of family stress and school refusal behaviour.

Question 13

Conclusion

Answer 13

• Autism spectrum disorder is heterogenous and complex.
• Signs can be detected in early childhood.
• Early diagnosis and intervention are necessary to significantly improve long- term functionality. (Can still change DQ before the age of 5; then it will become IQ, this cannot be changed)
• The abilities and needs of autistic people vary and can evolve over time.
• Care for people with autism needs to be accompanied by actions at community and societal levels for greater accessibility, inclusivity and support.