Cognitive profile of school‐age children and teenagers with hypohidrotic ectodermal dysplasia (HED)

Abstract

Anhidrotic/hypohidrotic ectodermal dysplasia (HED) is the most common of the ectodermal dysplasias characterized by a triad of absent or reduced sweat, hypodontia and misshapen teeth, and missing or sparse hair. As the central nervous system is primarily ectodermal in origin, it has long been a concern that HED may be associated with developmental delay and/or intellectual disabilities. While published reviews report abnormalities in mental or motor development in 15-25% of HED-affected patients, there is no report in the literature including a systematic assessment of intellectual abilities in a cohort of patients with this rare disorder. During yearly health care updates, many of our clinic families report attention difficulties in young HED patients without evidence of a significant impact on school performance. In an exploratory study to identify and quantify intellectual abnormalities that may be associated with HED, we performed a psychological examination of 23 HED patients by means of the Wechsler Intelligence Scales, WPPSI-III, and WISC-IV. The interpretation of the tests shows no significant impairment in the achievements of the sample group compared with normative values (full scale scores, and index scale scores of the WISC-IV). At an individual level, the HED-affected patients were characterised by higher scores on the Verbal Comprehension Index, on Perceptual Reasoning and Working Memory Indices, and lower scores on the Processing Speed Index. As all of the Indices were within normal limits for the study population, in the absence of major mental/motor disabilities these findings support the mainstream education of HED-affected children.

Neuropsychological Profile of an Adolescent Female With Ectodermal Dysplasia With Hypohidrosis

“…To our knowledge, this is the first case report to comprehensively characterize the full neuropsychological and academic profile of an adolescent female with ectodermal dysplasia with hypohidrosis. Two previous studies examined intellectual functioning in individuals with HED and reported scores in the average range (Hadj-Rabia et al, 2014; Maxim et al, 2012). However, another study (Bildik et al, 2012) reported an overall IQ score in the below average range, with average verbal IQ scores and borderline nonverbal IQ scores, in a 14-year-old with HED.…”

“…Ectodermal dysplasias are suspected to be associated with cognitive impairment (eg, Blüschke et al, 2010; Hummel and Guddack, 1997) because the neural ectoderm is associated with brain development (Hadj-Rabia et al, 2014), and cognitive deficits have been shown to manifest in other disorders with brain-to-skin involvement (Maxim et al, 2012). However, there is a lack of systematic research examining the cognitive and academic phenotypes of individuals with ectodermal dysplasia.…”

“…Two studies have systematically examined intellectual functioning in individuals with HED. Hadj-Rabia et al (2014) used the Wechsler Preschool and Primary Scale of Intelligence, Third Edition (Wechsler, 2002), and the Wechsler Intelligence Scale for Children, Fourth Edition (Wechsler, 2003), to assess intellectual functioning in 23 children with HED and found no significant differences in Full-scale IQ, Verbal Comprehension, Perceptual Reasoning, Working Memory, or Processing Speed Index scores compared with normative values. Similarly, using the Kaufman Brief Intelligence Test (Kaufman and Kaufman, 1990), Maxim et al (2012) found no significant differences between 45 youth with HED and 59 matched controls on verbal and nonverbal intellectual scores.…”

Das Münsteraner Konzept zur Therapie der ektodermalen Dysplasien im Kontext der wissenschaftlichen Literatur

“…Aktuellere Arbeiten widersprechen dieser Annahme. Bei heranwachsenden Patient*innen mit ED (mittleres Alter: 8 Jahre) konnte keine signifikante Beeinträchtigung der kognitiven und schulischen Leistungen im Vergleich zu nicht betroffenen Gleichaltrigen [26], sowie zu normativen Werten festgestellt werden [27]. Alle erhobenen Indizes lagen innerhalb der physiologischen Grenzen, so dass weder geistige noch motorische Beeinträchtigungen vorlagen.…”

“…Alle erhobenen Indizes lagen innerhalb der physiologischen Grenzen, so dass weder geistige noch motorische Beeinträchtigungen vorlagen. Alle inkludierten Studienteilnehmer*innen besuchten die Regelschule zum entsprechenden Alter [27].…”