Biomedical subjects

W J Mahoney

Publications and source records attributed to W J Mahoney.

7 recordsLinked to original sources

PubMed2000

The familial aggregation of the lesser variant in biological and nonbiological relatives of PDD probands: a family history study.

OBJECTIVE: To determine the risk of the lesser variant (or PDD-like traits) in the biological and nonbiological second- and third-degree relatives of PDD probands using a screening questionnaire and to investigate the extent to which the risk of the lesser variant differs according to various characteristics of the proband. METHOD: The sample consists of a series of 34 nuclear families with 2 affected PDD children (multiplex, MPX), 44 families with a single PDD child (simplex, SPX), and 14 families who adopted a PDD child. Data on characteristics of the lesser variant in 1362 biological and 337 nonbiological second- and third-degree relatives were collected from parents by telephone interview and from several maternal and paternal relatives by questionnaire. RESULTS: All components of the lesser variant were more common in biological relatives (BR) than nonbiological relatives (NBR), confirming the familial aggregation of the traits. Proband characteristics associated with an increased risk of the lesser variant in relatives were a higher level of functioning and coming from a MPX family. CONCLUSIONS: These findings on the familial aggregation of the lesser variant suggest that the genes for PDD also confer susceptibility to the lesser variant and that PDD may be a genetically heterogeneous disorder.

Adolescent↗

PubMed1999

Detecting Attention Deficit Hyperactivity Disorder in a communications clinic: diagnostic utility of the Gordon Diagnostic System.

This study examines the sensitivity, specificity, predictive values, and likelihood ratios of laboratory measures of attention and impulsivity (the Gordon Diagnostic System; GDS) in 99 school-aged boys with a history of suspected language disorders. Classification analyses comparing scores from these tests with parent and teacher ratings of attention deficit hyperactivity disorder (ADHD) symptoms revealed low positive predictive values (20.0% to 36.8%) and high negative predictive values (71.9% to 87.9%). Likelihood ratios for abnormal test scores were low to moderate (0.74 to 1.73), suggesting that these tests may not accurately identify children with ADHD. Likelihood ratios for normal scores were also low to moderate (0.41 to 1.16). These findings suggest that GDS scores have clinical utility in ruling out a diagnosis of ADHD, but not in confirming the diagnosis in a clinic population of boys with communicative disorders who are at risk for developing ADHD.

Attention↗

PubMed1999

Familial factors influence level of functioning in pervasive developmental disorder.

OBJECTIVE: To determine whether siblings with pervasive developmental disorders (PDD) tend to have the same type and number of PDD symptoms or a similar level of functioning. METHOD: The familial correlations for PDD subtype, symptom totals, adaptive behaviors, and nonverbal IQ were calculated for 94 children with PDD from 46 families. RESULTS: On variables measuring PDD symptoms, only impairments in nonverbal communication and verbal/nonverbal status tended to run true within families. There was no familial aggregation of PDD subtype. In contrast, measures of nonverbal IQ and adaptive behaviors in socialization and communication showed a moderate degree of familial resemblance. The degree of familial resemblance did not change if the analysis was restricted only to those families in which both affected children met criteria for autism. CONCLUSION: Insofar as the familial resemblance seen in PDD is due to genetic factors, these data provide some evidence that higher- and lower-functioning PDD children may arise from separate genetic mechanisms. Current gene-mapping studies of PDD may need to take this evidence of genetic heterogeneity into account.

Activities of Daily Living↗

PubMed1998

Reliability and accuracy of differentiating pervasive developmental disorder subtypes.

OBJECTIVE: To evaluate the ability of the DSM-IV criteria for the pervasive developmental disorders (PDD) to reliably and accurately differentiate PDD subtypes. METHOD: The sample consisted of 143 children with various types of developmental disabilities. A diagnosis of PDD and PDD subtype was made by one clinician using information obtained from the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule. The raw data from the Autism Diagnostic Interview-Revised, clinical notes (excluding diagnostic opinion), Autism Diagnostic Observation Schedule, IQ, and other available data were independently assessed by three experienced raters, each of whom then made a separate, blind diagnosis. If there was any disagreement, a consensus best-estimate (CBE) diagnosis was made after discussion. To assess reliability, the agreement between the three raters was calculated using k. Accuracy was assessed by calculating the agreement between the clinician's diagnosis and the CBE and by calculating the error rates associated with the three raters using latent class analysis. RESULTS: The current DSM-IV criteria show good to excellent reliability for the diagnosis of PDD, Asperger's disorder (AsD), and autism, but they show poor reliability for the diagnosis of atypical autism. The clinician (compared to the CBE) had little difficulty differentiating PDD from non-PDD children and autism from AsD but had more difficulty identifying children with atypical autism. The latent class analysis also showed that the average error rates of the three raters for a differentiation of atypical autism from autism were unacceptably high. CONCLUSIONS: Although the psychometric properties of the current DSM-IV criteria for autism and AsD appear quite acceptable, there is likely to be a high rate of misclassification of children given a diagnosis of atypical autism.

Adolescent↗

PubMed1995

Parents and collateral relatives of children with pervasive developmental disorders: a family history study.

The objective of this study was to see whether, using the family history method, the risk for pervasive developmental disorder (PDD), cognitive impairments, and other psychiatric symptoms is greater in the parents and collateral relatives of probands with PDD compared to a control group. A semistructured family history interview was carried out with the parents of 52 probands with PDD and 33 parents of controls. Rates of cognitive impairments and psychiatric problems were not found more frequently in parents or relatives of PDD probands compared to relatives of controls, but four cases of PDD were reported among the extended families of the PDD probands. The relatives with PDD were related to the probands through the maternal line, possibly suggesting some form of maternal influence on inheritance or reduced penetrance in females with the PDD genotype.

Adolescent↗

PubMed1983

Long-term outcome of children with severe head trauma and prolonged coma.

Forty-six children with significant head trauma who remained in coma more than 24 hours were the subjects of this long-term outcome study. Twelve (38%) died. The average length of coma in the 34 survivors was 15.5 days. Follow-up ranged from 9 months to 4 years (mean 21 months). Twenty-nine percent of the survivors were normal at follow-up. An additional 53% had mild cognitive or behavioral problems, but 61% of these had evidence of similar problems prior to the injury. Nine percent of survivors had motor residua but normal intellect. Nine percent had severe intellectual and motor problems. Children less than 2 years of age had a worse outcome. Despite severe injury and prolonged coma after head trauma, most children do well. Intensive medical and surgical care increases the rate of survival and does not result in a large number of severely disabled survivors.

Adolescent↗

PubMed1982

Extrapyramidal cerebral palsy: a changing view.

Earlier surveys of cerebal palsy characterized patients with extrapyramidal (choreoathetoid) cerebral palsy as having little cognitive impairment and few associated deficits. Anoxia, which has now replaced neonatal hyperbilirubinemia as a major cause of this type of cerebral palsy, predictably produces a diffuse type of brain damage. Evaluations of children with extrapyramidal cerebral palsy seen in a pediatric habilitation center revealed high incidences of mental retardation, epilepsy, and other associated deficits. These findings have implications for the management and habilitation of children with extrapyramidal cerebral palsy.

Basal Ganglia Diseases↗