So‐Called “Anhidrotic Ectodermal Dysplasia”

Freire‐Maia, N.; Pinheiro, Marta

doi:10.1111/j.1365-4362.1980.tb05898.x

Cited by 13 publications

(11 citation statements)

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“…The wide variability among past reports in the estimates of intellectual disability in people with HED (range 10–50%) may reflect significant methodological limitations, including isolated case reports of syndromes associated with HED or small sample sizes [9, 10, 17–19]. Case reports of college graduates with HED who have above average intelligence support our findings of above average intelligence in some people affected with HED [8].…”

Section: Discussionsupporting

confidence: 66%

“…Some studies assessing cognition in people with HED have suggested substantial risk (10–50%) for delayed mental development [7–10]. A number of factors may contribute to these impressions, including bias toward people with facial or dental dysmorphic features [11], unexamined impressions of academic performance or intelligence [12, 13], and increased risk for hyperthermic brain damage [14].…”

Section: Introductionmentioning

confidence: 99%

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Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia

Maxim

Zinner

Matsuo

et al. 2012

The Scientific World Journal

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Objective. Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial. Method. In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years) and 59 matched unaffected controls (70% males, mean age 9.79 years) were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. Results. There were no statistically significant differences between the two groups in intelligence quotient composite and educational achievement scores, suggesting absence of learning disability in either group. No gender differences within or between groups were found on any performance measures. Among affected youth, parental education level correlated positively with (1) cognitive vocabulary scores and cognitive composite scores; (2) educational achievement for mathematics, reading, and composite scores. Conclusion. Youth affected with HED and unaffected matched peers have similar profiles on standardized measures of cognition, educational achievement, and adaptive functioning although children with HED may be at increased risk for ADHD.

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Section: Discussionsupporting

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia

Maxim

Zinner

Matsuo

et al. 2012

The Scientific World Journal

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“…Criteria for accepting patients to the study were clinical features in a male (Table l), (Freire-Maia & Pinheiro 1980, Gorlin & Pindborg 1964) associated with an X-linked pedigree or a mother presenting heterozygote manifestations.…”

Section: Patientsmentioning

confidence: 99%

Expression of X‐linked hypohidrotic ectodermal dysplasia in six males and in their mothers

Söderholm

Kaitila

1985

Clinical Genetics

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Six male patients with confirmed X-linked hypohidrotic ectodermal dysplasia and their mothers were studied to determine the variation of expressivity in patients and heterozygotes, major problems of the patients, and to find a clue to pathogenesis.The number of teeth, conic in shape, in patients varied from none to 14. In addition to hypohidrosis and hypotrichosis, dry skin, reduced salivation, hoarseness and hypoplasia of the nipples were common signs. Five patients had frequent respiratory infections.The mothers lacked more than four permanent teeth, one mother had hypodontia in the deciduous dentition.The sweat pore counts were low in patients, and lower than normal in the mothers. All patients carried P-hemolytic streptococci, four of them group A either in nose or pharynx, without symptoms. Immunoglobulin values, including IgA were normal in serum and saliva.Unexpectedly, serum parathyreoid hormone concentrations both in patients and mothers were low.The major problem of the families was the risk of hyperpyrexia due to hypohidrosis, but the patients' concern was mostly because of their facial appearance.

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“…In fact, the symptoms of females are generally minor and not of medical interest, and although affected females outnumber affected males, often close female relatives of the male probands are not studied or are only superficially examined. 18 Thus, mild signs of HED in heterozygous female carriers may go unnoticed. 19 Dental abnormalities, mild hypohidrosis, and mild hypotrichosis are the most commonly described signs in female carriers of X-linked HED.…”

Section: Commentmentioning

confidence: 99%