Intellectual Disability and autism spectrum disorder Flashcards
ID (intellectual disorder) and ASD (autism spectrum disorder)
Disorders identified early in development- some identifiable at birth or soon after, some identified when demands exceed ability
Affect the individual throughout the lifespan, idividual will always have this issue, in some cases intervention can improve outcome of core issue, but largely core issues remain throughout life
Screening for ID and ASD
All kids should be screened for intellectual abilities and cognitive functioning
AAP recommends standardized screening at 9,12,18, 24, 30 months (bright futures)
Further developmental evaluation is required whenever a child fails to meet any of the following milestones: babbling by 12 mo, gesturing (pointing waving bye bye) by 12 months, single words by 16 months, 2 word spontaneous phrases by 24 months, loss of any language or social skills at any age
All children who screen positive should be referred to testing of cognitive and adaptive functioning
Children may come to attention late as demand exceed abilities
Genetic work up
Standard of care for any new diagnosis of ASD/IDD that is idiopathic
Chromosomal microarray- in all cases of idopathic ASD/IDD regardless of gender
Fragile X- in all males, in females with low IQ/family history of low IQ
PTEN testing- if head circumference is >2 SDs aboce the mean and other body measurements not similarly elevated
MECP2 testing- in females with microcephaly, regression, seizures
Physical work up
Physical exam- hearing screening, vision screening, woods lamps (ro Tuberous sclerosis)
Other medical issues- seizures (staring or regression, with marked development of aphasia and EEG= Landaue-kleffner syndrome)
Infections- encephalitis or meningitis, endocrine- hypothyroidism, metabolic- homocystinuria, toxic- FAS
Intellectual disability, intellectual developmental disorder
Etiology of ID/IDD
Prenatal- Genetic and chromosomal, malformations or growth errors (down syndrome, fragile X, etc), Maternal illness and infections, teratogens and toxins, substance abuse
Perinatal- delivery complications, infections
Post natal- trauma, infections, toxins, environmental, medical conditions
Unknown
Why diagnose an ID/IDD
ID/IDD describes symptoms and functioning but does not indicate cause
Helps to communicate with schools, agencies, and other health care providers
provides a foundation for interactions with individual and collaborators
Conveys needs to schools, agencies, and other health care providers
Provides wording to obtain services, assistance
Who can diagnose and ID IDD
Child psychiatrists, testing psychologist, neuropsychologist, school psychologists, psychology or neuropsychological clinic
Mental health clinic with testing psychologist or neuropsychologist
State clinic or center
special needs clinic
What it takes to diagnose a ID/idd
- Deficits in intellectual functions: such as reasoning, problem solving, planning, abstract thinking, judgement, and academic learning and learning from experience, confirmed by both clinical assessment and individualized, standardized intelligence testing (book smarts)
- Deficits in adaptive functioning that result in failure to meet developmental and sociocultural standards for personal independence and social responsibility in the three domains (street smarts)
- Onset of intellectual and adaptive deficits during the developmental period
Diagnosis- the three domains of Adaptive functioning
Conceptual or academic- competency in memory, language, reading, writing, math, acquisition of practical knowledge, problems solving, and judgment in novel situation
Social- awareness of others thoughts, feelings, and experiences including empathy, interpersonal communication skills, friendship abilities, and social judgment
Practical- Self management skills across settings including ADLs, money management, recreation, self management of behavior, job responsibilities, No longer any IQ criteria for these domains
Mild severity level
Conceptual domain- difficulties in learning academic skills involving reading, writing, arithmetic, time, or money. Impaired abstract thinking, executive function, short-term memory, functional use of academic skills
Social domain- Immature in social interactions, concrete or immature language, difficulties regulating emotion and behavior, limited understanding of risk in social situations, at risk of being manipulated (gullibility)
Practical domain (may function at age-appropriate level, need support with complex tasks, jobs that do not emphasize conceptual skills, support required for abstract concepts
Moderate severity level
conceptual domain- language and pre-academic skills develop slowly, Slow progress in reading, writing, math, time and money understanding, markedly limited compared with that of peers, remain at a very concrete level
Social domain- Marked differences in social and communicative behavior, social judgement and decision making abilities are limited, need social support for work success
Practical domain- Extended teaching and time needed to become independent, can achieve participation in all household tasks by adulthood, need extended teaching and ongoing supports, independent jobs that require limited conceptual and communication skills, need considerable support to manage social expectations, maladaptive behavior in a significang minority and causes social problems
Severe severity levels
Conceptual domain- limited attainment of conceptual skills, little understanding of written language or of concepts involving numbers, quantity, time, and money, caretakers provide extensive supports for problem solving
Social domain- limited vocabulary and grammar, family members and familial others are a source of pleasure and help
Practical domain- Require support including meals, dressing, bathing, and elimination, require supervision at all times, cannot make responsible decisions regarding well being of self or others, long term teaching and ongoing support in skill acquisition in all domains, maladaptive behavior, including self injury in a significant minority
Autism (spectrum disorder) epidemiology
about 1/59 kids, 5x more common among boys (1 in 42 vs 1 in 89 in girls), about 1/2 of individuals with Autism have average intellectual abilities compared to 1/3rd of individuals a decade ago (more people are smart)
Emerging risk factors for ASD (correlations and not causations)
Advanced paternal/maternal age
Family members with autistic features, sibling with ASD, infections during pregnancy and lengthy fevers, short birth spacing, folate prenatal and early pregnancy
SSRIs and valproate, pesticides, air pollution, diabetes, obesity, AI disease,
DSM 5 ASD diagnosis
A. persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history
Deficits in social-emotional reciprocity, deficits in nonverbal communicative behaviors used for social interaction, deficits in developing, maintaining, and understanding relationships
B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least 2 of the following, currently or by history-
Stereotyped or reptitive motor movements, use of objects or speech, insistence on sameness, inflexible adherance to routines, or ritualized patterns of verbal or non verbal behavior, highly restricted, fixated interests that are abnormal in intensity or focus hyper or hypo reactivity to sensory input or unusal interest in sensory aspects of environment
C. symptoms must be present in the early developmental period
D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning
E. These disturbances are not better explained by intellectual disability (IDD) or global developmental delay (deficits in social communication cant be better explainted by cognitive level of functioning)