Varied MR appearance of autism: Fifty-three pediatric patients having the full autistic syndrome

Nowell, Martha Ann; Hackney, David B.; Muraki, Alan; Coleman, Mary

doi:10.1016/0730-725x(90)90018-w

Cited by 44 publications

(19 citation statements)

References 17 publications

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“…Such lesions are not confined to sickle cell disease. Similar imaging abnormalities have been reported in thalassaemia, [87] migraine headaches, [88] haemophilia, [89] autism [90] and leukaemia. [91] A silent infarct prevalence of 17% was reported for a group of 199 children with HbSS who constituted a newborn cohort in a natural history study.…”

Section: Silent Infarctssupporting

confidence: 66%

Stroke in Children With Sickle Cell Anaemia

Pegelow

2001

Paediatric Drugs

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Cerebral infarction is a frequent, severe complication of sickle cell anaemia. During childhood, most strokes are due to infarction with the majority resulting from occlusion of the large cerebral arteries. Risk factors include transient ischaemic attacks, acute chest syndrome, severe anaemia and elevated blood pressure. Less certain is the association with leucocytosis, or protection provided by alpha-thalassaemia or fetal haemoglobin. Children who have one stroke are at significant risk for having subsequent events that can be substantially reduced by maintaining haemoglobin S below 30%. It has not yet been possible to identify individuals for whom transfusion can be safely stopped. Haemosiderosis is a consequence of intensive and long term transfusion therapy, which requires chelation with deferoxamine. Iron accumulation can be minimised using erythrocytapheresis but this is technically difficult in children, expensive and results in increased donor exposure. In addition to lesions associated with strokes, an additional 17% of patients can be shown to have clinically silent cerebral infarcts. Although these are termed 'silent', those affected have mild neuropsychological deficits. Their relationship to stroke or risk for recurrence is unknown. Transfusion therapy has been shown to provide primary stroke prevention for children who have elevated cerebral artery velocity. Finally, intracranial haemorrhages, more commonly found in adults, also affect children. Subarachnoid haemorrhage is frequently found to result from cerebral artery aneurysms. A condition that mimics the moyamoya syndrome radiographically, as well as for its risk of haemorrhage, can be found in children with partly occluded cerebral arteries either as a result of stroke or silent infarct.

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Section: Silent Infarctssupporting

confidence: 66%

Stroke in Children With Sickle Cell Anaemia

Pegelow

2001

Paediatric Drugs

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“…Cortical abnormalities include enlarged volume of left lateral ventricle or of both ventricles, cortical malformations such as polymicrogyria, schizencephaly and macrogyria. [30][31][32][33] None of these findings is consistent with or specific to autism. Abnormal findings in the posterior fossa structures described in autistic patients include hypoplasia of lobules VI and VII of the cerebellar vermis and brainstem hypoplasia.…”

Section: Neuropathology and Neuroimagingmentioning

confidence: 67%

Autismo e doenças invasivas de desenvolvimento

Gadia¹,

Tuchman²,

Rotta³

2004

J. Pediatr. (Rio J.)

121

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Objective: To review the current knowledge on neurobiological aspects of autism and pervasive developmental disorders, as well as to provide pediatricians with up to date information on diagnosis and treatment of autism. Sources of data: Review of MEDLINE and Internet.Summary of the findings: Autism is the 3rd developmental disorder, with an incidence of 40 to 130/100,000 individuals. Diagnosis is based on clinical findings, following DSM IV criteria. Neuroimaging, investigation of fetal neurological status, and genetic investigation contribute towards a better understanding of the neurobiology of autism. Conclusion:Pediatricians are the first health professional to come in contact with patients with autism. Thus, they should be able to diagnose and to coordinate the multidisciplinary treatment of these patients.J Pediatr (Rio J). 2004;80(2 Suppl):S83-S94: Autism, child behavior, child development.

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“…Case reports by Nyhan et al (1969), Stone et al (1992) and Stathis et al (2000) each involved only a few individuals. In addition, the size estimate of the hyperuricosuric subgroup of individuals with autism was based on studies by Coleman et al (1976), which identified 15/72 (21%) children with autism as hyperuricosuric compared to 2 out of 69 (3%) controls, and Nowell et al (1990) who indicated that 6/53 (11%) individuals with autism ''had abnormalities of purine metabolism'' -no mention of purine metabolism was made in regards to the 32 controls in the latter study. Studies by Stubbs et al (1982) and Zoroglu et al (2004) both used small sample sizes.…”

Section: Discussionmentioning

confidence: 99%

“…Although these case reports are insufficient to support a hypothesis of a major role for defects in these enzymes in ASDs, hyperuricosuric autism, which is thought to be a disorder of purine metabolism (Page & Coleman, 2000), has been found in 11-28% of cases of autism (Coleman, Landgrebe, & Landgrebe, 1976;Nowell, Hackney, Muraki, & Coleman, 1990). Hyperuricosuric autism is characterized by a four-fold de novo increase in purine synthesis (Page & Coleman, 2000) and increased excretion of uric acid (>2 SD of the normal mean) (Coleman et al, 1976).…”

Section: Introductionmentioning

confidence: 97%

The G22A Polymorphism of the ADA Gene and Susceptibility to Autism Spectrum Disorders

Hettinger

Holden

2007

J Autism Dev Disord

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Inborn errors of purine metabolism have been implicated as a cause for some cases of autism. This hypothesis is supported by the finding of decreased adenosine deaminase (ADA) activity in the sera of some children with autism and reports of an association of the A allele of the ADA G22A (Asp8Asn) polymorphism in individuals with autism of Italian-descent. We tested the ADA G22A polymorphism in 126 North American affected sib-pair families but found no aberrant allele distributions in cases versus controls. Instead, we found an increased transmission of the G allele from fathers to affected children. Our findings suggest that the ADA G22A polymorphism plays a minimal role in susceptibility to autism in North American families.

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Varied MR appearance of autism: Fifty-three pediatric patients having the full autistic syndrome

Cited by 44 publications

References 17 publications

Stroke in Children With Sickle Cell Anaemia

Stroke in Children With Sickle Cell Anaemia

Autismo e doenças invasivas de desenvolvimento

The G22A Polymorphism of the ADA Gene and Susceptibility to Autism Spectrum Disorders

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