Biomedical subjects

Molly Losh

Publications and source records attributed to Molly Losh.

6 recordsLinked to original sources

PubMed2007

Systematic screening for subtelomeric anomalies in a clinical sample of autism.

High-resolution karyotyping detects cytogenetic anomalies in 5-10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations.

Asperger Syndrome↗

PubMed2006

The broad autism phenotype questionnaire.

The broad autism phenotype (BAP) is a set of personality and language characteristics that reflect the phenotypic expression of the genetic liability to autism, in non-autistic relatives of autistic individuals. These characteristics are milder but qualitatively similar to the defining features of autism. A new instrument designed to measure the BAP in adults, the Broad Autism Phenotype Questionnaire (BAPQ), was administered to 86 parents of autistic individuals and 64 community control parents. Sensitivity and specificity of the BAPQ for detecting the BAP were high (>70%). Parents of children with autism had significantly higher scores on all three subscales: aloof personality, rigid personality, and pragmatic language. This instrument provides a valid and efficient measure for characterizing the BAP.

Autistic Disorder↗

PubMed2006

Understanding of emotional experience in autism: insights from the personal accounts of high-functioning children with autism.

In this study, the authors investigate emotional understanding in autism through a discourse analytic framework to provide a window into children's strategies for interpreting emotional versus nonemotional encounters and consider the implications for the mechanisms underlying emotional understanding in typical development. Accounts were analyzed for thematic content and discourse structure. Whereas high-functioning children with autism were able to discuss contextually appropriate accounts of simple emotions, their strategies for interpreting all types of emotional (but not nonemotional) experiences differed from those used by typically developing children. High-functioning children with autism were less inclined to organize their emotional accounts in personalized causal-explanatory frameworks and displayed a tendency to describe visually salient elements of experiences seldom observed among comparison children. Findings suggest that children with autism possess less coherent representations of emotional experiences and use alternative strategies for interpreting emotionally evocative encounters. Discussion focuses on the significance of these findings for informing the nature of emotional dysfunction in autism as well as implications for theories of emotional understanding in typical development.

Adolescent↗

PubMed2005

A case of autism and uniparental disomy of chromosome 1.

We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often associated with autism, including mild mental retardation, small head circumference, hyperactivity, poor fine motor skills, slightly dysmorphic facial features and a heightened interest in olfactory stimulation. His brother, who did not have chromosome 1 UPD, was also autistic. The mother, but not the father, had a history of psychiatric illness and a number of personality and social traits similar to the core features of autism. The discovery of the cytogenetic abnormality was made during the course of a genome-wide linkage screen, wherein genotypes at 6 out of 17 chromosome 1 markers were non-Mendelian and all transmissions were consistent with UPD. Further genotyping (a total of 54 markers) revealed alternating regions of heterodisomy and isodisomy. Whereas chromosome 1 UPD has not been shown to cause disease by effects on imprinting, numerous reports exist of the abnormality unmasking recessive disease-causing mutations. In agreement with this, one of the regions of isodisomy overlaps an emerging chromosome 1 region of interest in autism located at 150-160 Mb.

Autistic Disorder↗

PubMed2004

"Frog, where are you?" Narratives in children with specific language impairment, early focal brain injury, and Williams syndrome.

In this cross-population study, we use narratives as a context to investigate language development in children from 4 to 12 years of age from three experimental groups: children with early unilateral focal brain damage (FL; N=52); children with specific language impairment (SLI; N=44); children with Williams syndrome (WMS; N=36), and typically developing controls. We compare the developmental trajectories of these groups in the following domains: morphological errors, use of complex syntax, complexity of narrative structure, and types and frequency of evaluative devices. For the children with early unilateral brain damage, there is initial delay. However, by age 10, they are generally within the normal range of performance for all narrative measures. Interestingly, there are few, if any, side specific differences. Children with SLI, who have no frank neurological damage and show no cognitive impairment demonstrate significantly more delay on all morphosyntactic measures than the FL group. Quantitatively, on morphosyntactic measures, the SLI group clusters with those children with WMS who are moderately retarded. Together these data help us to understand the extent and nature of brain plasticity for language development and those aspects of language and discourse that are dissociable.

Brain Injuries↗

PubMed2003

Narrative ability in high-functioning children with autism or Asperger's syndrome.

This study examines the narrative abilities of 28 high-functioning children with autism or Asperger's Syndrome and 22 typically developing children across two different discourse contexts. As compared with the typically developing children, the high-functioning group performed relatively well in the storybook context but exhibited difficulty imbuing their narratives of personal experience with the more sophisticated characteristics typically employed by the comparison group. Furthermore, children with autism or Asperger's Syndrome demonstrated impairments inferring and building on the underlying causal relationships both within and across story episodes in both narrative contexts. Findings further revealed that the narrative abilities of children with autism or Asperger's Syndrome were associated with performance on measures of emotional understanding, but not theory of mind or verbal IQ. Findings are discussed in relation to the social and emotional underpinnings of narrative discourse.

Aptitude↗