ASD

Question 1

what is the inheritance percentage of ASD?

Answer 1

Sibling studies indicate that ASD occurs in 7–20% of subsequent children after an older child is diagnosed with ASD, and this prevalence is increased in children with two older siblings with ASD. Risk is 3–4-times higher in boys than girls

Question 2

what is the first line treament for ASD?

Answer 2

Several well designed randomised controlled trials have shown that low-intensity interventions that coach parents on how to interact with their young children with ASD can result in immediate effects on children’s social behaviour and communication. These treatments emphasise teaching parents and caregivers to establish joint engagement, avoid being very directive, and create opportunities for shared attention and balanced play so that children gradually take more initiative.16 The treatments can also help, to some degree, to alleviate the distress of families and give them something positive to focus on

Question 3

what is the percentage of ADHD in ASD popupations?

Answer 3

ADHD is the most common comorbidity in people with ASD (28·2% )

Question 4

what is the percentage of aggression in ASD?

Answer 4

Irritability and aggression are more common in ASD (25%) than in other developmental disorders (eg, idiopathic intellectual disability),

Question 5

what comorbid psychiatric conditions co-occur with autism??

Answer 5

Anxiety in various different forms—including social anxiety, generalised anxiety, separation anxiety in younger children, and phobias

Question 6

prognostic factors for ASD?

Answer 6

The greatest gains, even into adulthood, are made by children who have begun to make progress in language and have about average non-verbal skills by 3 years of age

Question 7

Prevalance of ASD?

Answer 7

A 2012 review commissioned by WHO estimated that the global prevalence of ASD was about 1%,50 with a more recent review estimating the prevalence to be 1·5% in developed countries.

Question 8

maternal risk factors?

Answer 8

Advanced maternal age (≥40 years) and paternal age (≥50 years)54 have been independently associated with ASD risk in several studies,51 as have short inter-pregnancy intervals (<24 months).55 Non-specific non-optimal factors during pregnancy, including maternal metabolic conditions, weight gain, and hypertension, as well as more specific factors (such as maternal admission to hospital due to bacterial or viral infections, or familial history of autoimmune disease) have also been associated with a mildly increased risk of ASD and developmental delay combined

Question 9

intellectual disability associated?

Answer 9

Coexisting conditions vary in prevalence depending on the population studied, but include other neurodevelopmental disorders, intellectual disability (IQ <70; prevalence 15–65% for different samples) >10 years learning difficulties 75%

Question 10

verbal delay?

Answer 10

The prevalence of speech and language delays is estimated to be 87% in 3-year-old children with ASD

Question 11

other conditions?

Answer 11

Other conditions include tics (in 9% of preschool and school-age children),42 sleeping problems (25–40%),68, 69 restricted and rigid food choices (42–61%),70 obesity (23%),71 gastrointestinal symptoms (47%),72 and elimination problems, particularly bowel evacuation and constipation (12%).73 Epilepsy has a reported prevalence of 8·6% in people with ASD and is particularly associated with intellectual disability and female sex

Question 12

genetic variants?

Answer 12

A few variants are common enough that their associated features have been individually studied, such as chromosome 16p11.2 deletions and duplications83 and maternal 15q11–q13 duplications.

Question 13

genetic testing post diagnosis?

Answer 13

Many physician organisations now recommend that every child with ASD receive genetic testing, including fragile X syndrome testing and a chromosomal microarray to detect copy-number variants

Question 14

phenotype?

Answer 14

Among the most well replicated findings is a pattern of overgrowth of brain volume in infancy and early childhood, as documented through differences in brain volume on neuroimaging. Relative to typically developing children, those with ASD have accelerated brain development early in life, which results in altered connectivity

Question 15

pharmacological treatment?

Answer 15

Evidence-based pharmacology in ASD is currently limited to the treatment of co-occurring behaviours or diagnoses, not ASD itself. Risperidone and aripiprazole have improved symptoms of irritability or agitation in children and adolescents with ASD in randomised controlled trials. Overall, with use of these two medications, the majority of (but not all) children show improvement in irritability and agitation, which includes aggression, self-injury, and other disruptive behaviours

Question 16

mechanism of action of respiradone and aripiprazole?

Answer 16

Both drugs are mixed dopamine-receptor and serotonin-receptor antagonists or partial agonists, and are in a class commonly termed atypical antipsychotics

Question 17

what pharmacological treamtnet for co morbid ADHD/AS

D?

Answer 17

A few medications typically used to treat ADHD, including methylphenidate, atomoxetine, and guanfacine (table), also show benefit for ADHD symptoms in ASD, which occur in over a quarter of children

Question 18

DSM5 criteria 1: Persistent deficits in social communication and social interaction across multiple contexts, as manifested by what three characteristics?

Answer 18

Deficits in social–emotional reciprocity (eg, abnormal social approach and failure of normal back-and-forth conversation; or reduced sharing of interests, emotions, or affect)

Deficits in non-verbal communicative behaviours (eg, poorly integrated verbal and non-verbal communication, abnormalities in eye contact and body language, or deficits in understanding and use of gestures)

Deficits in developing, maintaining, and understanding relationships (eg, difficulties adjusting behaviour to suit various social contexts; or difficulties in sharing imaginative play or making friends)

Question 19

DSM5 criteria 2: Restricted, repetitive patterns of behaviour, interests, or activities, as manifested by what 4 characteristics?

Answer 19

Stereotyped or repetitive motor movements, use of objects, or speech (eg, simple motor stereotypies, lining up toys, or flipping objects)

Insistence on sameness, inflexible adherence to routines, or ritualised patterns of verbal and non-verbal behaviour (eg, extreme distress at small changes, difficulties with transitions, or rigid thinking patterns)

Highly restricted, fixated interests that are abnormal in intensity or focus (eg, strong attachment to or preoccupation with unusual objects)

Hyperreactivity or hyporeactivity to sensory input, or unusual interests in sensory aspects of the environment (eg, apparent indifference to pain or temperature, or adverse responses to specific sounds or textures)

Question 20

deletion genetics associated?

Answer 20

16.p11.2 and 1q21.1 (macrocephaly and autism) in deletion

in duplication lead to microcephaly and scizophrenia

Question 21

actual genes associated

Answer 21

GRIN2A, TSC2, cadherin 8, or CDH8