The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment.

AIM: To explore the cognitive and behavioral phenotype associated with a recently reported variant in endoplasmic reticulum membrane complex EMC10 c.287delG (Gly96Alafs∗9), suggested to cause a novel syndromic neurodevelopmental disorder. METHODS: Homozygous EMC10 variant identified by a combination of autozygosity mapping and exome sequencing was found in five children (aged 7-18) from a large extended family. Their functioning was compared to normative data as well as to that of age-matched relatives (siblings/cousins), sharing similar familial and demographic characteristics. Neuropsychological, behavioral, and daily functioning were assessed. RESULTS: Performance of all participants with EMC10 variant on both cognitive functioning and adaptive skills was lower than the normal range fulfilling diagnostic criteria for intellectual disability. Their functioning was also lower than that of their matched relatives on most areas of functioning, except visual memory that was found higher, in the low average range. Language difficulty was apparent in all participants with EMC10, and a discrepancy within participants' phenotype was found, with lower verbal abilities compared to visuospatial ability. More behavioral problems were found, although not in all participants with EMC10. CONCLUSION: Homozygous EMC10 variant was found associated with a phenotype of intellectual disability and language deficits.

The Impact of Childhood Hearing Loss on the Family: Mothers' and Fathers' Stress and Coping Resources.

Parenting children who are deaf or hard of hearing (D/HH) presents unique long-term challenges that can place the parents at a greater risk for elevated levels of parenting stress. Adaptation of families to the various challenges presented by childhood hearing loss is influenced by their personal and social coping resources available for managing these stressors and challenges. The current study examined differences in parenting stress and personal (i.e., acceptance of the child who is D/HH and parents' sense of parenting self-efficacy) and social (i.e., formal and informal social support) coping resources between mothers and fathers of children who are D/HH in the Arab sector in Israel. Further, the study examined the relations between coping resources and parenting stress among these parents. Participants included 30 Israeli Arab mother-father couples (n = 60) having a child who is D/HH aged 3-8 years. Findings revealed no significant differences between mothers and fathers regarding parenting stress, child acceptance, or parental support systems. However, mothers reported significantly higher self-efficacy. In addition, correlation analysis indicated that higher coping resources decreased parenting stress levels. Theoretical and practical implications of parental gender in the context of cultural background are discussed regarding parent intervention programs.