Autism and Pervasive Developmental Disorders

Mauk, Joyce E.

doi:10.1016/s0031-3955(16)38551-0

Cited by 17 publications

(9 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…An important non-genetic cause of autism is prenatal infection (Chess 1977). Neurodegenerative disorders may also be initially misdiagnosed as autism (Mauk 1993). Full medical investigation, including lumbar puncture was thought to be important for an understanding of the basic nature of autistic conditions, both in research and clinical practice (Gillberg and Coleman 1996).…”

Section: Methodsmentioning

confidence: 99%

Levels of cerebrospinal fluid nerve-growth factor differ in infantile autism and Rett syndrome

Riikonen¹,

Vanhala²

1999

Dev Med Child Neurol

View full text Add to dashboard Cite

Autism and Rett syndrome (RS) are both developmental disorders of unknown origin. Autism is a behaviourally defined syndrome. RS, which affects girls only, is characterized by a profound learning disability following early normal development, with a consistent cluster of clinical features. Differentiation of RS from infantile autism in the very early stages of the disorders is not always easy. Both syndromes still lack discriminative laboratory markers for accurate diagnosis and differentiation. We decided to compare the CSF nerve-growth factor (NGF) levels of children with infantile autism and children with RS using enzyme-linked immunosorbent assay (ELISA). Our findings of mainly normal CSF NGF in autism and low to negligible values in RS are in agreement with the different morphological and neurochemical findings (brain growth, affected brain areas, neurotransmitter metabolism) in the two syndromes. CSF NGF could be used as a biochemical marker for differentiation of patients with autism from those with RS.

show abstract

Section: Methodsmentioning

confidence: 99%

Levels of cerebrospinal fluid nerve-growth factor differ in infantile autism and Rett syndrome

Riikonen¹,

Vanhala²

1999

Dev Med Child Neurol

View full text Add to dashboard Cite

show abstract

“…17 Chromosomal abnormalities are known to be one of the most common causes of mental retardation and several studies have reported using a novel technique to screen for cryptic, submicroscopic chromosomal aberrations in patients with idiopathic mental retardation. 18 -20 Deletions and rearrangements in the subtelomeric regions were detected in a significant proportion of individuals with mental impairment, with aberration detection rates ranging from 3% to 23%.…”

mentioning

confidence: 99%

Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion

Wolff

Clifton

Karr

et al. 2002

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: Autism is a chronic neurodevelopmental disorder characterized by deficits in reciprocal social interaction, language and communication, and by the presence of stereotypical behaviors. The disorder is a complex genetic trait with no known predisposing genes. We report the results of a pilot project to screen for aberrations in the gene-rich subtelomeric chromosomal regions of a cohort of children with autism. Methods: For our pilot project, we used a multiprobe system that includes probes for the subtelomeric regions of all human chromosomes. We assessed the subtelomeric regions of chromosomes from 10 children with a diagnosis of autism. Results: The screen identified one child with an apparent deletion of the subtelomeric region of chromosome 2q; nine children and pooled control samples yielded normal results. The deletion in our patient was confirmed with two other subtelomeric probes and a targeted cytogenetic study revealed a subtle difference in appearance for one chromosome 2 homologue. Conclusion: There have been several reports of children with dysmorphic features, autistic behaviors, and 2q deletions detectable with standard cytogenetic techniques. It may be that the distal region of chromosome 2q harbors a gene or genes that may predispose to autism. Genet Med 2002:4(1):10 -14.

show abstract

“…It has been reported that autistic children frequently have atypical responses to sensory stimuli, such as an apparent hyposensitivity to pain. 5 In this case the patient did experience some pain -presumably as a response to his attempts to pull the tooth out -but not enough to deter him from autoextraction.…”

Section: Discussionmentioning

confidence: 85%