Macrocephaly Is an Independent Clinical Trait in Autism/ 2 Related Abstracts

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December 30, 2000 Search

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Also: * Cole- Macrocephaly Syndrome and Associated Autistic

Manifestations

* Macrocephaly In Autism And Other Pervasive Developmental

Disorders

Macrocephaly Is an Independent Clinical Trait in Autism

[in Reuters Health, Medscape. Thanks to AmbryW, Decelie and

Challoner.]

http://neurology.medscape.com/reuters/prof/2000/12/12.27/20001226epid003.htm

l

Macrocephaly, but not microcephaly or abnormal physical morphology, is

an independent " fundamental " attribute of autism, according to a new study

by researchers in Missouri.

" Macrocephaly may be useful as a phenotypic marker for an as yet

undiscovered autism gene(s), " Dr. Judith H. Miles, of the University of

Missouri-Columbia, and colleagues speculate in the December issue of the

American Journal of Medical Genetics.

Dr. Miles and her team examined head circumference and other

attributes associated with autism in 137 patients with idiopathic autism.

They categorized the patients into three groups by head circumference —

macrocephaly, normocephaly and microcephaly — and looked for other

characteristics of autism that defined these three groups.

Microcephaly, which was observed in 7.3% of the patients, was linked

to several other patient characteristics, including a lower IQ, morphologic

abnormality and seizures, as well as an overall poorer outcome. Morphologic

abnormalities were also independently associated with many of these traits,

in addition to sex ratio and sib recurrence rate.

On the other hand, macrocephaly, which was present in 23% of the

autistic patients, " did not define a unique autism subgroup, " the

investigators explain. In other words, macrocephaly was the only physical

characteristic examined that was independently associated with the diagnosis

of autism.

Macrocephaly also appeared to have a genetic component, as autistic

patients with macrocephaly had a macrocephalic parent in 45% of cases.

Moreover, 37% of normocephalic autistic patients also had a macrocephalic

parent, suggesting " that some gene(s) that cause macrocephaly also

predispose to autism, " the authors write.

Dr. Miles' team believes that this new finding offers direction in the

search for autism gene(s), which, up until now, have remained largely

elusive.

Am J Med Genet 2000;95:339-350.

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Cole- Macrocephaly Syndrome and Associated Autistic Manifestations

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_ui

ds=10982971 & dopt=Abstract

<http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_u

ids=10982971 & dopt=Abstract>

1: Am J Med Genet 2000 Sep 11;94(2):149-52 t Naqvi S, Cole T, Graham JM Jr

Department of Psychiatry, Cedars-Sinai Medical Center, Thalians Community

Mental Health Center, Los Angeles, California.

Based on cases that had been excluded from a previous clinical study

of Sotos syndrome, Cole and [1991: Am J Med Genet 41:115-124]

reported a new syndrome associated with marked obesity, occasional delayed

bone age, distinctive facial anomalies, mental retardation, and progressive

postnatal macrocephaly in the context of autosomal dominant familial

macrocephaly.

Subsequently, son et al. [1997: Lancet 349:1744-1745] emphasized

the association of progressive postnatal macrocephaly with autism, and they

suggested that this might comprise a recognizable autism syndrome. We report

two additional patients with Cole- syndrome and associated autistic

characteristics with attention deficit hyperactivity disorder.

These patients seem to manifest a distinctive behavioral phenotype

associated with Cole- syndrome and they manifest a distinct subgroup

of persons with autism that may ultimately shed light on the pathogenesis of

this disorder. Copyright 2000 Wiley-Liss, Inc.

PMID: 10982971, UI: 20440571

* * *

Macrocephaly In Autism And Other Pervasive Developmental Disorders

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_ui

ds=11104344 & dopt=Abstract

<http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_u

ids=11104344 & dopt=Abstract>

1: Dev Med Child Neurol 2000 Nov;42(11):737-40

Fidler DJ, JN, Smalley SL

UCLA Neuropsychiatric Institute, Los Angeles, CA, USA.

To assess the prevalence of macrocephaly (head circumference > or =

1.88 standard deviations above normative data for age and sex or > 97th

centile) in autism and other pervasive developmental disorders, 41 children

with autism, and a comparison group of 21 children with tuberous sclerosis

complex (TSC) or an unspecified seizure disorder were studied.

Familiality of head circumference was also assessed from measurements

of 133 first-degree relatives. Significantly higher rates of macrocephaly

were found in probands with autism (12.2%) and their first-degree relatives

(15.5%) when compared against a published normative sample. The incidence of

macrocephaly in the comparison group of probands with TSC and seizure

disorder (9.5%) and their first-degree relatives (8.3%) was higher than

normative data as well, although the relation between macrocephaly and

autism was more pronounced.

Head circumference and extreme scores reflecting macrocephaly were

moderately heritable in the present sample (H2 = 0.47). The increased

prevalence of macrocephaly in relatives of children with autism compared

with control children suggests that this characteristic may be a familial

risk factor in the pathogenesis of autism.

PMID: 11104344, UI: 20552756

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