Case 5 Autism and social-emotional development
1. Does Sophie have an autism spectrum disorder? Can the DSM-5 diagnostic criteria
be objectified or rejected on the basis of the above mentioned data (include the
developmental course of the disorder in the discussion)?
- A. Persistent deficits in social communication and social interaction across multiple
contexts, as manifested by the following, currently or by history (examples are
illustrative, not exhaustive; see text):
o 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.
o 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.
o 3. Deficits in developing, maintaining, and understand 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.
o Specify current severity: Severity is based on social communication
impairments and restricted, repetitive patterns of behavior.
- B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by
at least two of the following, currently or by history (examples are illustrative, not
exhaustive; see text):
o Stereotyped or repetitive motor movements, use of objects, or speech (e.g.,
simple motor stereotypes, lining up toys or flipping objects, echolalia,
idiosyncratic phrases).
o Insistence on sameness, inflexible adherence to routines, or ritualized patterns
of verbal or nonverbal behavior (e.g., extreme distress at small changes,
difficulties with transitions, rigid thinking patterns, greeting rituals, need to
take same route or eat same food every day).
o 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 interests).
o Hyper- or hyporeactivity to sensory input or unusual interest 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).
o Specify current severity: Severity is based on social communication
impairments and restricted, repetitive patterns of behavior.
- C. Symptoms must be present in the early developmental period (but may not become
fully manifest until social demands exceed limited capacities, or may be masked by
learned strategies in later life).
- 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 (intellectual
developmental disorder) or global developmental delay. Intellectual disability and
autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism
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, spectrum disorder and intellectual disability, social communication should be below
that expected for general developmental level.
- Specify if:
o With or without accompanying intellectual impairment
o With or without accompanying language impairment
o Associated with a known medical or genetic condition or environmental factor
o Associated with another neurodevelopmental, mental, or behavioral disorder
o With catatonia (refer to the criteria for catatonia associated with another mental
disorder)
Chapter yeates
- Asperger's disorder shares the social disabilities and restricted, repetitive behaviors of
autism, but language is well developed and intellectual functioning is not impaired. Its
symptoms are identical to those just listed for autistic disorder, except that there is no
requirement of any difficulties in the second category, communication.
- Individuals who meet criteria for autistic disorder and are intellectually normal are
considered "high-functioning."
- Rett's disorder and childhood disintegrative disorder. Both involve a period of typical
development, followed by a regression in development. The classic symptoms of
Rett's disorder, seen primarily in females, include unsteady gait; lack of language and
functional hand use; almost constant stereotyped hand movements, including
repetitive wringing, "washing," twisting, clapping, or rubbing of the hands in the
midline very severe cognitive deficits; and lack of typical social interaction. In
childhood disintegrative disorder, an abrupt and severe regression occurs after at least
2 (and up to 10) years of normal development. After the loss of skills, the child has all
the characteristics of severe autism and severe mental retardation; unlike in typical
autism, however, there is little developmental growth after treatment, and the
condition continues as a chronic, severe developmental disability.
- PDD-NOS. This label is used for children who experience difficulties in at least two of
the three autism related symptom clusters, but who do not meet criteria for any other
PDD.
Developmental course
- The onset of autistic disorder always occurs before age 3, at two peak periods. The
majority of children (2/3) display developmental abnormalities within the first 2 years
of life. A smaller group of children with autism display a period of normal or mostly
normal development, followed by a loss of communication. and social skills and onset
of autism.
- In the regressive pattern of onset, there is a period of mostly typical development,
followed by loss of previously acquired behavior and onset of autistic symptoms. The
average age of regression is consistently described across studies as between 14 and
24 months. Regression typically progresses gradually, although onset can be sudden in
a minority of cases. It is important to distinguish regression from developmental
plateau, in which children fail to progress as expected and do not gain new skills. This
form of onset is not considered a regression, as there is no loss of previously acquired
skills. Virtually all children who lose language lose social behaviors as well, such as
eye contact, social interest, and engagement with others.
- ASDs are considered lifelong, chronic conditions. There may be periods of waxing or
waning of particular symptoms and improvement with age and development, however.
Some studies suggest that improvement is most marked in preschool and early
childhood, with functioning levels remaining stable and sometimes even worsening in
adolescence and adulthood. Once diagnosed with an ASD, the vast majority of
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, children will retain this diagnosis into adulthood and present with functional
impairment throughout life
Epidemiology
- 1 per 150 across the spectrum of autism, and 1 per 500 for children with the full
syndrome of autistic disorder. One obvious reason for the rise in rates is that more
recent research has examined all ASD, whereas early surveys looked at rates of only
strictly defined autism
- Several reasons for the rising prevalence rates have been proposed, from
methodological artefacts to potentially emerging risk factors. In the first category are
increased awareness among clinicians and the public, better identification/referral
practices, more sensitive diagnostic tools, broader classification systems, and more
active case ascertainment in epidemiological studies. Whether these changes alone can
account for the large increase is uncertain, and hypotheses abound about
environmental factors that may have emerged in the last few decades to put infants
and young children at greater risk for developing ASD.
- It had occasionally been suggested that the rate of ASD is higher in immigrant than in
native populations. The current consensus is that there is no relationship between
ethnicity or race and ASD in large studies with adequate sampling and statistical
controls
- 4:1 ratio of boys to girls
Etiology
- Genetic mechanisms: The recurrence risk for ASD after the birth of one child with the
disorder is usually reported as between 3% and 6%. Twin studies yield a heritability
estimate greater than .90. ASD is not a purely genetic disorder, since concordance
rates among identical twins fall short of 100%. There can be tremendous phenotypic
variability even among MZ twins, with one twin displaying severe autism and the
other the BAP (broader autism phenotype). Risk factors: advanced maternal and
paternal age, low birthweight, premature birth, and intrapartum hypoxia.
- Environmental factors: failed to find any increase in vaccinated relative to
unvaccinated children, and any temporal clustering of cases of autism after
immunization. Current scientific evidence does not support a link between ASD and
thimerosal exposure (kwik).
- Brain mechanisms: unusually large head size, macrocephaly, increase in head volume
reflects an increase in brain volume, which is not apparent at birth but is present by the
first birthday due to both overgrowth and the failure of normal pruning mechanisms.
structural neuroimaging studies have yielded inconsistent results. posterior portions of
the corpus callosum have been reported to be significantly smaller than normal. area
dentata of the hippocampus was significantly smaller. increased hippocampal and
amygdala volumes. Functional brain imaging studies have more consistently
demonstrated differences in samples of children with ASD. reduced cerebral blood
flow bilaterally in the superior temporal gurus and left frontal cortex. reduced or
different patterns of brain activity from those of controls. reduced activation of
prefrontal cortex, but increased activation of ventral occipitotemporal networks
Neuropsychology
- General intellectual function: Autism is often associated with mental retardation. A
quarter of children with autism function intellectually in the borderline range or above.
They perform least well on intellectual tasks that require language, abstract reasoning,
integration, and sequencing, and best on tasks that require visual-spatial processing,
attention to detail, and rote memory abilities. These intellectual profiles have been
suggested to be so consistent and universal in children with autism that they can be
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