Cognitive and psychological functioning in focal dermal hypoplasia

Abstract

Focal dermal hypoplasia (FDH) is a condition caused by heterozygous mutation of the PORCN gene on chromosome Xp22.3. It impacts the primitive ectoderm and mesoderm, affecting skin, teeth, nails, hair, musculoskeletal development, and vision and hearing. To date, there has been no systematic research examining the psychoeducational impact of the disorder. The current study examined emotional, behavioral, adaptive, and intellectual ability in 17 subjects with ages ranging from 3 to 55 with FDH attending the 2013 Annual Family Conference of the National Foundation for Ectodermal Dysplasias. Findings suggested overall average functioning in all areas. However, wide variability was noted in this sample, with 3 participants (18%) exhibiting overall cognitive ability in the borderline to impaired range. These findings are consistent with previous reports suggesting intellectual impairment in 15% of persons with FDH. Similarly, a subgroup of children was rated by parents as exhibiting difficulties with behavior (2 out of 11; 18%) and emotions (5 out of 11; 45%). Of particular concern was withdrawn behavior, reported by 65% of parents. These findings suggest that clinicians should routinely screen persons with FDH to rule out cognitive and emotional/behavioral difficulties and offer timely treatment. Future research should focus on identifying risk factors for psychoeducational problems in this population.

Changes in Cognitive Function and Risk Factors for Cognitive Impairment of the Elderly in China: 2005–2014

“…In addition to exploring the entire picture of changes in cognitive function of the elderly in China, this study also explores risk factors for cognitive impairment in the Chinese elderly. Risk factors for cognitive impairment have been extensively documented throughout the world and include: (1) demographics, such as age, gender, education level, marital status, coresidence and income [25,26,27,28,29,30]; (2) psychological factors [31,32]; (3) lifestyle, including diet, smoking, drinking and exercising [33,34,35,36,37,38]; (4) ADL [39,40]; (5) social engagement [41,42]; and (6) cardiovascular risk factors, including hypertension, diabetes, heart disease, stroke or CVD and dyslipidemia [43,44,45]. A few studies have attempted to identify risk factors for cognitive impairment of the Chinese elderly; however, the data were either too outdated or cross-sectional to precisely grasp the core of the issue from a dynamic perspective [23,46,47].…”

Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner

“…Males account for 10% of affected individuals and they always have mosaic mutations. Hemizygous non‐mosaic mutations are thought to be lethal in males (Deidrick, Early, Constance, Stein, & Fete, 2016). In contrast to X‐linked dominant inheritance described in Goltz syndrome, we present a novel variant in the PORCN gene found in all affected hemizygous males as well as in their unaffected, heterozygous carrier mothers, pointing to the X‐linked recessive mode of inheritance (Figure 1).…”

Focal dermal hypoplasia (Goltz Syndrome): A cross-sectionalstudy from Eastern India

“…showed that intellectual impairment may occur in 15%–18% of persons with FDH. [ 11 ] Behavioral or emotional problems may also occur in patients with Goltz syndrome. Withdrawn behavior was reported by 65% of parents.…”

“…Future research should focus on identifying risk factors for psychoeducational problems in this population. [ 11 ]…”