AIM: To characterize the neurodevelopmental profile and systemic features of HIVEP2-related disorder. METHOD: This study used retrospective medical history and standardized assessment data from Simons Searchlight to describe the clinical characteristics of 12 individuals (eight males, four females; age range 3y 3mo-12y 8mo; mean age [SD] 7y 7mo [2y 11mo]) with pathogenic HIVEP2 variants, focusing on their levels of adaptive functioning, autism symptomology, and emotional and behavioral characteristics. RESULTS: Common features included neonatal complications, hypotonia, developmental delay, intellectual disability, language impairment, gastroesophageal reflux, and strabismus. A minority of individuals had epilepsy, microcephaly, or a movement disorder. Based on the Vineland Adaptive Behavior Scales, Second Edition, affected individuals showed impairments in adaptive behavior (mean composite standard score [SD] 56.4 [10.2]; n=8). The cohort also had significant impairments in social problems, as measured by the Social Responsiveness Scale, Second Edition (mean total score [SD] 76.4 [11.3]; n=10) and clinically significant emotional and behavioral difficulties, as measured by the Child Behavior Checklist for ages 6-18 (mean total T score [SD] 66.9 [8.2]; n=8). INTERPRETATION: These results show that individuals with HIVEP2-related disorder have impairments in adaptive and social-related behaviors as well as difficulties in emotional and behavioral symptoms.
AIM: To characterize the neurodevelopmental profile and systemic features of HIVEP2-related disorder. METHOD: This study used retrospective medical history and standardized assessment data from Simons Searchlight to describe the clinical characteristics of 12 individuals (eight males, four females; age range 3y 3mo-12y 8mo; mean age [SD] 7y 7mo [2y 11mo]) with pathogenic HIVEP2 variants, focusing on their levels of adaptive functioning, autism symptomology, and emotional and behavioral characteristics. RESULTS: Common features included neonatal complications, hypotonia, developmental delay, intellectual disability, language impairment, gastroesophageal reflux, and strabismus. A minority of individuals had epilepsy, microcephaly, or a movement disorder. Based on the Vineland Adaptive Behavior Scales, Second Edition, affected individuals showed impairments in adaptive behavior (mean composite standard score [SD] 56.4 [10.2]; n=8). The cohort also had significant impairments in social problems, as measured by the Social Responsiveness Scale, Second Edition (mean total score [SD] 76.4 [11.3]; n=10) and clinically significant emotional and behavioral difficulties, as measured by the Child Behavior Checklist for ages 6-18 (mean total T score [SD] 66.9 [8.2]; n=8). INTERPRETATION: These results show that individuals with HIVEP2-related disorder have impairments in adaptive and social-related behaviors as well as difficulties in emotional and behavioral symptoms.
Authors: Heidi Goldsmith; Anna Wells; Maria J N Sá; Mark Williams; Helen Heussler; Melissa Buckman; Rolph Pfundt; Bert B A de Vries; Himanshu Goel Journal: Am J Med Genet A Date: 2019-06-17 Impact factor: 2.802
Authors: Joohyun Park; Roberto Colombo; Karin Schäferhoff; Luigi Janiri; Mona Grimmel; Marc Sturm; Ute Grasshoff; Andreas Dufke; Tobias B Haack; Martin Kehrer Journal: Mol Syndromol Date: 2019-04-03
Authors: Hallie Steinfeld; Megan T Cho; Kyle Retterer; Rick Person; G Bradley Schaefer; Noelle Danylchuk; Saleem Malik; Stephanie Burns Wechsler; Patricia G Wheeler; Koen L I van Gassen; P A Terhal; Virginie J M Verhoeven; Marjon A van Slegtenhorst; Kristin G Monaghan; Lindsay B Henderson; Wendy K Chung Journal: Neurogenetics Date: 2016-03-22 Impact factor: 2.660