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L Zwaigenbaum

Publications and source records attributed to L Zwaigenbaum.

10 recordsLinked to original sources
PubMed2006

A qualitative investigation of changes in the belief systems of families of children with autism or Down syndrome.

BACKGROUND: There have been few reports of the world views, values and priorities of families of children with autism or Down syndrome, despite the fact that family belief systems are considered to be among the most important factors affecting the adaptation and resilience of families. METHODS: Transcripts from three focus groups involving 19 key informants (15 parents of children with autism or Down syndrome, and 4 service providers) were analysed using qualitative methods. RESULTS: The themes indicated that raising a child with a disability can be a life-changing experience that spurs families to examine their belief systems. Parents can come to gain a sense of coherence and control through changes in their world views, values and priorities that involve different ways of thinking about their child, their parenting role, and the role of the family. Although parents may grapple with lost dreams, over time positive adaptations can occur in the form of changed world views concerning life and disability, and an appreciation of the positive contributions made by children to family members and society as a whole. Parents' experiences indicate the importance of hope and of seeing possibilities that lie ahead. CONCLUSIONS: The information from this study may be used to provide families with an advance understanding of the changes in beliefs that they might undergo, and assists service providers in providing individualized and family-centred services and supports to families.

Adaptation, Psychological↗
PubMed2005

A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p.

We report a 4-year-old girl with a de novo, apparently balanced complex chromosome rearrangement. She initially presented for assessment of velopharyngeal insufficiency due to hypernasal speech. She has distinctive facial features (long face, broad nasal bridge, and protuberant ears with simplified helices), bifid uvula, strabismus, and joint laxity. She is developmentally delayed, with language and cognitive skills approximately 2 SD below the mean expected for her age, and meets ADI, ADOS, and DSM-IV criteria for pervasive developmental disorder. She has poor eye contact, atypical communication and social interaction, repetitive behaviours and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter- >10pl2.32::8p12- >8qter), der(l0)(8pter- >8p21.3::10p12.32- >10p11.23::8p21.3- > 8p12::10p11.23- >l0qter). The der(8) is a result of translocation of the segment 10p12.32-pter onto 8p12. The der(l0) has two 8p segments collectively from 8p12-pter in that the segment 8p21.3-pter is translocated onto 10p12.32 and the segment 8p12-p21.3 is inserted at 10p11.23. FISH analysis showed no microdeletion of the major locus at 22q11.2 nor for the minor locus at 10p13p14. This case suggests that aberrations at 8p12, 8p21.3, 10p11.23 and/or 10p12.32 may result in pervasive developmental disorder, associated with mild cognitive delay and specific facial anomalies.

Child Development Disorders, Pervasive↗
PubMed2001

Autistic spectrum disorders in preschool children.

OBJECTIVE: To review existing data on early signs of autistic spectrum disorders (ASD) and on how these disorders can be distinguished from other atypical patterns of development, and to describe a developmental surveillance approach that family physicians can use to ensure that children with these diagnoses are detected as early as possible. QUALITY OF EVIDENCE: MEDLINE was searched from January 1966 to July 2000 using the MeSH terms autistic disorder/diagnosis AND diagnosis, differential AND (infant OR child, preschool). Articles were selected based on relevance to developmental surveillance in primary care and on experimental design, with emphasis on prospective studies with systematic measurement procedures using up-to-date diagnostic criteria. MAIN MESSAGE: Autistic spectrum disorders are characterized by impairments in social interaction and verbal and nonverbal communication, and by preferences for repetitive interests and behaviours. Early signs that distinguish ASD from other atypical patterns of development include poor use of eye gaze, lack of gestures to direct other people's attention (particularly to show things of interest), diminished social responsiveness, and lack of age-appropriate play with toys (especially imaginative use of toys). Careful attention to parents' concerns and specific inquiry into and observation of how children interact, communicate, and play will help ensure that early signs are detected during regular health maintenance visits. CONCLUSION: Family physicians have an important role in early identification of children with ASD. Early diagnosis of these disorders is essential to ensure timely access to interventions known to improve outcomes for these children.

Autistic Disorder↗
PubMed2000

High functioning autism and Childhood Disintegrative Disorder in half brothers.

Childhood Disintegrative Disorder (CDD) is grouped with autism as a subtype of Pervasive Developmental Disorder (PDD) in ICD-10 and DSM-IV. This is the first report of autism and CDD cosegregating within a sibship. J. P. and M. P. are half-brothers with the same mother. J. P. is an 18-year-old with impairments in communication, social reciprocity, and stereotypies and was diagnosed with autism. M. P. is a 7-year-old who developed normally to 2 years 4 months. He then underwent a profound regression, becoming nonverbal and socially withdrawn, and lost adaptive skills. Investigations did not reveal any neurodegenerative process. M. P. was diagnosed with CDD. The rarity of the two conditions suggests a shared transmissible mechanism. The implications for autism/PDD genetic studies are discussed.

Adolescent↗
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

Highly somatizing young adolescents and the risk of depression.

OBJECTIVE: To determine if high levels of somatization symptoms in 13- to 16-year-olds from the general population predict risk of major depression and other psychiatric disorders 4 years later. METHOD: Cohort study, using interview and self-report survey data from the 1983 Ontario Child Health Study (OCHS) and 1987 OCHS Follow-up. The study population included 1015 13- to 16-year-olds from the general community within Ontario. Baseline levels of somatization and emotional disorder were measured by the Survey Diagnostic Instrument, a checklist based on DSM-III criteria. Data were also collected for a range of sociodemographic factors, as well as the presence of chronic health problems. Major depression, anxiety disorders, and substance abuse and dependency at follow-up were measured using a self-administered questionnaire derived from the Diagnostic Interview Schedule. Bivariate and multiple logistic regression techniques were used to assess the relationship between high levels of somatization symptoms (>90th percentile) and later emotional morbidity, with adjustment for potential confounding factors, including gender and baseline disorders. RESULTS: Highly somatizing adolescents are at increased risk of major depression 4 years later, an association that is not explained by detectable emotional disorder at baseline or gender differences between groups. There is an important interaction between somatization and emotional disorder in predicting risk of major depression. It is primarily the group of 13- to 16-year-olds not recognized as being emotionally disordered at the initial OCHS survey in which somatization symptoms increased risk of later depression. The young teen with high levels of somatic complaints had as much risk of later depression as his/her peer with more typical symptoms of emotional disorder. Highly somatizing adolescents were also more likely to describe panic attacks at 4-year follow-up. There was no increased risk of substance abuse/dependency in the highly somatizing group or in generalized anxiety. CONCLUSIONS: High levels of somatic symptoms identified in young adolescents in the community represent a significant risk factor for major depression 4 years later, particularly in those individuals who do not present with more typical symptoms of emotional disorder. To detect the emergence of this serious emotional morbidity, adequate follow-up and continuity of care for these challenging patients are needed.

Adolescent↗
PubMed1998

Genetics of autism: overview and new directions.

Genetic epidemiology is the study of inherited factors involved in the etiology of a disease or disorder and uses the methods of both medical genetics and clinical epidemiology. In general, genetic epidemiology tries to answer the following four questions: Is the disorder inherited; What phenotype is inherited; How is it inherited or what is the mode of transmission; and What is the nature of the genetic mutation, if any, that gives rise to the disorder? The hope is that by identifying the gene or genes involved in pathophysiology, a much better understanding of the steps from gene product to phenotype will be possible, leading to improvements in diagnosis, an opportunity for thoughtful family planning, and perhaps, most important, to the development of treatments based on an understanding of the biochemistry of the disorder. We review the current knowledge of the genetic epidemiology of autism and the other pervasive developmental disorders (PDDs) and highlight promising new directions. There seems to be widespread agreement that the PDDs are caused, at least in part, by genetic factors. There is also some agreement on the phenotypic boundaries associated with these same genetic factors. However, many points of uncertainty remain, and several methodologic issues need to be resolved before further progress in mapping susceptibility genes is possible. We do not specifically review molecular studies, medical conditions associated with autism, or the broader autism phenotype, as these topics are covered in other papers in this special issue.

Autistic Disorder↗
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↗