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Classification of developmental delays.

Developmental delay is frequently used to identify children with delay in meeting developmental milestones in one or more streams of development. There is no consensus on the specific definition. Developmental delay is best viewed generically as a chief complaint rather than a diagnosis. A child suspected to have delays should always be assessed in each of the major streams of development: expressive and receptive language, including social communication; visual problem solving (nonverbal cognition); motor development; neurobehavioral development; and social-emotional development. A model developed by the National Center for Medical Rehabilitation Research is used to compare existing classifications of developmental delays. This model defines the five domains in the disability process: pathophysiology, impairment, functional limitation, disability, and societal limitation. An etiology domain is added. This model is used to illustrate how existing classification systems of cerebral palsy, mental retardation, autism, and language delay draw on information from one or more domains. The model illustrates some of the conflicts between different systems. For example, most classification systems for cerebral palsy emphasize only impairment (spasticity, dyskinesias, and topography). The current definition and classification system for mental retardation focuses on functional limitations (IQ), disability, and societal limitations, ignoring pathophysiology and details of impairment. Given the complexity of neurodevelopmental disabilities, it is unlikely that a single classification system will fit all needs.

Activities of Daily Living↗

Positron emission tomography in pediatric neurology.

Positron emission tomography (PET) is an accurate and relatively noninvasive way of studying brain activity using systemically administered tracers labeled with positron emitting isotopes. In pediatric neurology, it has great scope not only to elucidate the complexities of the developing brain but also to understand disease processes and characterize biological risk factors. Its greatest clinical utility lies in the field of epilepsy where it is used (in patients with intractable partial epilepsy) to localize epileptogenic foci for surgical resection. In addition, functional brain mapping using PET is increasingly being used to reliably and accurately identify speech and sensory-motor areas to minimize postoperative morbidity. PET is also useful in evaluating neurodegenerative disorders and cognitive abnormalities when magnetic resonance imaging scans are unrevealing. The technology continues to progress rapidly through improvements in imaging and radiopharmacology with potential applications in neurooncology, cerebral vascular disease, and metabolic diseases.

Brain↗

Review of adaptive behavior studies in mentally retarded persons with autism/pervasive developmental disorder.

A review is presented of the investigations carried out concerning the adaptive behavior of persons with the dual disability of mental retardation and autism/PDD. A close correspondence is found between the results obtained by means of a Dutch set of scales, the SRZ, SGZ, and SMZ, and those obtained by means of the Vineland Adaptive Behavior Scales. Compared with matched nonautistic persons, the performance of dually disabled persons is found to be particularly poor in the domain Social Skills/Socialization and somewhat less poor in the domain Communication. Performance of the two categories does not differ in the domains Self Help/Daily Living Skills and Gross Motor Skills/Motor Skills. As a net result, persons of the dually disabled category are found to obtain comparatively low total scores for social competency, the SRZ-Total/Adaptive Behavior Composite. In addition, autistic mentally retarded persons are found to display more maladaptive behavior. For comparative studies in the mental retardation field the use of level of Self Help/Daily Living Skills and, to a lesser extent, level of Gross Motor Skills/Motor Skills are recommended as suitable matching variables.

Activities of Daily Living↗

Toward a developmental operational definition of autism.

Traditional approaches to diagnosing autism emphasize delays in communication and socialization. Traditional diagnostic schemes typically list symptoms (e.g., lack of eye contact), but provide little guidance on how to incorporate information about developmental level in making a diagnosis. Because standardized measures of adaptive behavior can provide information about children's communication, socialization, and other behavior relative to their age, they may be useful tools for diagnosing autism. This study investigated the ability of the Vineland Adaptive Behavior Scales to identify children with autism. Vineland scores and measures of intellectual functioning were obtained for children with autism, PDDNOS, and other developmental disorders (DD). Discriminant function analyses indicated that the autism and combined nonautism (PDDNOS and DD) groups could be differentiated on the basis of socialization, daily living skills, and serious maladaptive behaviors. Socialization alone accounted for 48% of the variance in diagnosis. Using regression analyses derived from a large normative sample, adaptive behavior scores were predicted from chronological age (CA) and mental age (MA). Socialization scores in the autism group were substantially below the level predicted from CA or MA. An index derived from the ratio of actual to predicted socialization scores correctly classified 86% of both autism and nonautism cases. Findings suggest that comparison of obtained Vineland socialization scores to those predicted by CA or MA may be useful in clarifying the diagnosis of autism.

Adaptation, Psychological↗

Creativity and imagination in autism and Asperger syndrome.

Three studies are reported that address the often described impoverished creativity in autism. Using the Torrance Creativity Tests, Experiment 1 found that children with autism and Asperger syndrome (AS) showed impairments. Experiment 2 tested two explanations of these results: the executive dysfunction and the imagination deficit hypotheses. Results supported both hypotheses. Children with autism and AS could generate possible novel changes to an object, though they generated fewer of these relative to controls. Furthermore, these were all reality-based, rather than imaginative. Experiment 3 extended this using a test of imaginative fluency. Children with autism and AS generated fewer suggestions involving attribution of animacy to foam shapes, compared to controls, instead generating reality-based suggestions of what the shapes could be. Although this is evidence of executive dysfunction, it does not directly account for why imaginative creativity is more difficult than reality-based creativity.

Autistic Disorder↗

A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children.

The high-functioning Autism Spectrum Screening Questionnaire (ASSQ) is a 27-item checklist for completion by lay informants when assessing symptoms characteristic of Asperger syndrome and other high-functioning autism spectrum disorders in children and adolescents with normal intelligence or mild mental retardation. Data for parent and teacher ratings in a clinical sample are presented along with various measures of reliability and validity. Optimal cutoff scores were estimated, using Receiver Operating Characteristic analysis. Findings indicate that the ASSQ is a useful brief screening device for the identification of autism spectrum disorders in clinical settings.

Adolescent↗

Sibling relationships when a child has autism: marital stress and support coping.

Family systems theory was employed to study sibling relationships in 50 families with a child with autism. Typically developing siblings expressed satisfaction with their sibling relationships. Parents were somewhat less positive about the sibling relationship than were the siblings themselves. As hypothesized, stress in the marital relationship was associated with compromised sibling relationships. Informal social support buffered the deleterious effects of marital stress on positive, but not negative, aspects of the sibling relationship. Contrary to predictions, families experiencing high marital stress who sought greater support from formal resources external to the family had typically developing siblings who reported a higher level of negative sibling behaviors than families who sought low levels of formal support. Findings reinforce the importance of considering family context as a contributor to the quality of the sibling relationship.

Adaptation, Psychological↗

Plasma amino acids profiles in children with autism: potential risk of nutritional deficiencies.

The plasma amino acid profiles of 36 children with autism spectrum disorders were reviewed to determine the impact of diet on amino acid patterns. Ten of the children were on gluten and casein restricted diets administered by parents, while the other 26 consumed unrestricted diets. No amino acid profile specific to autism was identified. However, children with autism had more essential amino acid deficiencies consistent with poor protein nutrition than an age/gender matched control group. There was a trend for children with autism who were on restricted diets to have an increased prevalence of essential amino acid deficiencies and lower plasma levels of essential acids including the neurotransmitter precursors tyrosine and tryptophan than both controls and children with autism on unrestricted diets. These data indicate that larger, more focused studies of protein nutrition in children with autism are needed in order to determine the extent to which restricted diets might place the developing brains of children with autism at risk from protein malnutrition. The high rate of tryptophan and tyrosine deficiency in this group is also of concern given their role as neurotransmitter precursors.

Amino Acids↗

Teaching VOCA use as a communicative repair strategy.

Students with developmental disabilities often rely on prelinguistic behavior (e.g., reaching, leading) to communicate. When listeners fail to attend to prelinguistic behaviors, students may benefit from responding with an alternative form of communication to repair the breakdown. In the present study, we taught two students with developmental disabilities to repair communicative breakdowns by using a voice-output communication aid (VOCA). Intervention occurred at morning snack time when the students had the opportunity to access preferred items through prelinguistic behavior (e.g., reaching, guiding). Breakdowns occurred when the listener failed to attend to the student's initial request. Effects of the intervention were evaluated in a multiple-baseline design across subjects. Both students learned to use the VOCA to repair communicative breakdowns. As VOCA use was acquired as a repair strategy, the students also began to use the device to initiate requests when there had been no breakdown in communication. The intervention appeared to be an effective approach for supplementing prelinguistic behaviors with an additional option for communicating a request.

Adolescent↗

Autism and Asperger syndrome: coexistence with other clinical disorders.

OBJECTIVE: : To provide a clinically useful analysis of the extent to which autism and Asperger syndrome coexist with other disorders. METHOD: Selective review of the literature detailing data pertaining to symptoms and disorders sometimes encountered in connection with autism or Asperger syndrome. RESULTS: A large number of medical conditions, psychiatric disorders and behavioural and motor dyscontrol symptoms are associated with autism and Asperger syndrome. CONCLUSION: Comorbidity is to be expected in autism spectrum disorders -directly or indirectly. Comorbid conditions may be markers for underlying pathophysiology and suggest a more varied treatment approach. There is a great need for in-depth research into this area, meaning that the exclusion criteria of current diagnostic manuals, i.e. those that rule out a diagnosis of autism in some disorders, and a diagnosis of certain other disorders in autism may have to be revised.

Age Factors↗

Quantitative electroencephalographic profiles for children with autistic spectrum disorder.

The present study examined quantitative electroencephalographic (QEEG) profile for children with autistic spectrum disorder (ASD). Five-minute QEEG data were obtained from 90 normal controls (NCs) and 66 children with ASD. Spectrum analyses revealed that ASD children showed significantly less relative alpha and more relative delta than NC. Specifically, 26% of ASD children and 2% of NCs showed 1.5 SDs of relative alpha below the normative mean. Children with this QEEG profile had 17 times the risk of having ASD than those without such a profile. Sensitivity and specificity of relative alpha were 91% and 73%, respectively. Split-half cross-validation yielded a sensitivity of 76%.

Adolescent↗

Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice.

Fragile X syndrome (FXS) is the most common single gene (FMR1) disorder affecting cognitive and behavioral function in humans. This syndrome is characterized by a cluster of abnormalities including lower IQ, attention deficits, impairments in adaptive behavior and increased incidence of autism. Here, we show that young males with FXS have profound deficits in prepulse inhibition (PPI), a basic marker of sensorimotor gating that has been extensively studied in rodents. Importantly, the magnitude of the PPI impairments in the fragile X children predicted the severity of their IQ, attention, adaptive behavior and autistic phenotypes. Additionally, these measures were highly correlated with each other, suggesting that a shared mechanism underlies this complex phenotypic cluster. Studies in Fmr1-knockout mice also revealed sensorimotor gating and learning abnormalities. However, PPI and learning were enhanced rather than reduced in the mutants. Therefore, these data show that mutations of the FMR1 gene impact equivalent processes in both humans and mice. However, since these phenotypic changes are opposite in direction, they also suggest that murine compensatory mechanisms following loss of FMR1 function differ from those in humans.

Acoustic Stimulation↗