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Biomedical subjects

Susan L Hyman

Publications and source records attributed to Susan L Hyman.

11 recordsLinked to original sources

Is there a 'regressive phenotype' of Autism Spectrum Disorder associated with the measles-mumps-rubella vaccine? A CPEA Study.

A multi-site study of 351 children with Autism Spectrum Disorders (ASD) and 31 typically developing children used caregiver interviews to describe the children's early acquisition and loss of social-communication milestones. For the majority of children with ASD who had experienced a regression, pre-loss development was clearly atypical. Children who had lost skills also showed slightly poorer outcomes in verbal IQ and social reciprocity, a later mean age of onset of autistic symptoms, and more gastrointestinal symptoms than children with ASD and no regression. There was no evidence that onset of autistic symptoms or of regression was related to measles-mumps-rubella vaccination. The implications of these findings for the existence of a 'regressive phenotype' of ASD are discussed.

Autistic Disorder↗

Familial autoimmune thyroid disease as a risk factor for regression in children with Autism Spectrum Disorder: a CPEA Study.

A multicenter study of 308 children with Autism Spectrum Disorder (ASD) was conducted through the Collaborative Programs of Excellence in Autism (CPEA), sponsored by the National Institute of Child Health and Human Development, to compare the family history of autoimmune disorders in children with ASD with and without a history of regression. A history of regression was determined from the results of the Autism Diagnostic Interview-Revised (ADI-R). Family history of autoimmune disorders was obtained by telephone interview. Regression was significantly associated with a family history of autoimmune disorders (adjusted OR=1.89; 95% CI: 1.17, 3.10). The only specific autoimmune disorder found to be associated with regression was autoimmune thyroid disease (adjusted OR=2.09; 95% CI: 1.28, 3.41).

Autistic Disorder↗

Introduction: novel therapies in developmental disabilities--hope, reason, and evidence.

Complementary and alternative medicine (CAM) is used both alongside (complementary) and as a substitute for (alternative) conventional therapies. Although CAM use is reported to be high among children with typical development, reported rates for CAM use to address symptoms of children with developmental disabilities may be higher. Increased use in this population may relate to hope for amelioration of symptoms, concerns regarding side effects of conventional treatments, and a need on the part of families to participate in decision making regarding their child's care. Primary health care providers may find that the child's needs are best served when they maintain a dialogue with families to evaluate the evidence supporting novel therapies. Interventions need to be assessed in an evidence based fashion whether or not they are initially preceived as CAM. This issue of Mental Retardation and Developmental Disabilities Research Reviews contains reviews of CAM used to treat several developmental disabilities as well as some broader discussions related to the determinants of CAM use, current efforts to evaluate novel therapies, and how to consider the possibility of placebo effects.

Attention Deficit Disorder with Hyperactivity↗

Novel treatments for autistic spectrum disorders.

In no area of developmental pediatric practice is there more controversy regarding the choice of treatment than related to children with autistic spectrum disorders (ASD). Complementary and alternative medical therapies (CAM) are often elected because they are perceived as treating the cause of symptoms rather than the symptoms themselves. CAM used for autism can be divided by proposed mechanism: immune modulation, gastrointestinal, supplements that affect neurotransmitter function, and nonbiologic intervention. Secretin as a therapy for autism is discussed as an example of how a clinical observation rapidly grew to a widespread treatment before well-designed studies demonstrated absence of effect. The plausibility for behavioral effect was not substantiated by clinical studies. CAM used for treatment of autism is examined in terms of rationale, evidence of efficacy, side effects, and additional commentary. Families and clinicians need access to well-designed clinical evidence to assist them in choice of therapies.

Anti-Bacterial Agents↗

The use of two language tests to identify pragmatic language problems in children with autism spectrum disorders.

PURPOSE: Pragmatic language disorders (PLDs) are difficult to diagnose in a cost-effective manner, and there are few assessment tools that yield quantitative data. This investigation was designed to determine whether two formal assessment tools would differentiate PLDs in children with autism spectrum disorders (ASDs) from controls matched on verbal IQ and language fundamentals. METHOD: Thirty-four matched participants were given the Test of Pragmatic Language (TOPL; D. Phelps-Terasaki & T. Phelps-Gunn, 1992) and the Strong Narrative Assessment Procedure (SNAP; C. J. Strong, 1998). RESULTS: Participants with ASDs had significantly poorer scores than controls on the TOPL. On the SNAP, the children with ASDs performed similarly to controls on syntax, cohesion, story grammar, and completeness of episodes. The controls performed significantly better only on the ability to answer inferential questions. CLINICAL IMPLICATIONS: The TOPL was effective in differentiating PLDs in children with ASDs when performance was compared tomatched controls. The SNAP did not clearly differentiatelanguage problems in these two groups. Research is needed to develop formal assessment tools that target the unique language disabilities of high-functioning individuals with ASDs.

Adolescent↗

Early regression in social communication in autism spectrum disorders: a CPEA Study.

In a multisite study of 351 children with autism spectrum disorders, 21 children with developmental delays, and 31 children with typical development, this study used caregiver interviews (i.e., the Autism Diagnostic Interview-Revised) at the time of entry into other research projects and follow-up telephone interviews designed for this project to describe the children's early acquisition and loss of social-communication milestones. Children who had used words spontaneously and meaningfully and then stopped talking were described by their caregivers as showing more gestures, greater participation in social games, and better receptive language before the loss and fewer of these skills after the loss than other children with autism spectrum disorders. A significant minority of children with autism without word loss showed a very similar pattern of loss of social-communication skills, a pattern not observed in the children with developmental delays or typical development.

Age Factors↗

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.

Adolescent↗

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↗

Use of complementary and alternative treatments for children with autistic spectrum disorders is increasing.

Interventions considered to be CAM are in constant flux. New treatments emerge, older treatments become less popular, and the cycle recurs. Data supporting new treatments should be scrutinized for scientific study design, clinical safety, and scientific validity. Many families approach the clinician armed with brochures, handouts, and printouts from Web sites that are dedicated to the care and support of parents and children with ASD. A recent web search using "autism and detoxification" resulted in almost 8,000 sites. The Defeat Autism Now! (DAN!) Project arose in 1995 from collaboration of members of the Autism Research Institute. The DAN! Project advocates a specific and extensive protocol for diagnosis and treatment and can be viewed at http://www.autism.com/ari/#dan. The scientific validation and support for many interventions is incomplete and disparate from the recommendation in the American Academy of Pediatrics Policy Statement. Families should be encouraged to discuss all proposed investigations or treatments they wish to try with their primary care provider so the practitioner can serve as the medical home (Sidebar, page 688). The clinician should communicate and collaborate with the family and educational professionals to encourage objective identification of what works. With increasing access to health information and societal pressure for families to actively participate in their health management, continued growth of interest in CAM can be anticipated. Clinicians must remember that parents may have different beliefs regarding the effectiveness of treatment and different tolerance for treatment risks. Practitioners must keep avenues of communication open, remain open-minded, and not assume a "don't ask, don't tell" posture in the context of providing a medical home to the increasing number of children diagnosed with autism.

Autistic Disorder↗