Abstract:
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilities due to consanguineous marriages. The aim was to investigate the prevalence of three new ARHL genes (GJB4, GJC3, and SLITRK6) reported in neighboring countries among Iranian families with ARNSHL.Methods: One hundred unrelated families with at least two affected siblings in consanguineous marriage, who were negative for GJB2 gene mutations, were selected. By using three STR markers for each gene, homozygosity mapping was performed.Results: Two families showed linkage to GJB4, six families were linked to GJC3 and only one family linked to SLITRK6. The samples of these families who showed linkage were sent for Sanger sequencing to detect the causative mutations. However, after analyzing the sequencing results, no mutation could be detected in either of the families. Molecular analysis for these nine families is underway in order to determine the pathogenic mutations using whole exome sequencing.Discussion: These data demonstrate a very low prevalence of mutation in these three genes (GJB4, GJC3, and SLITRK6) in the Iranian population, since no mutation was detected in our study group of 100 families.
Machine summary:
Therefore, in order to investigate the relationship between QOL and gross motor function, the present study used the Cerebral Palsy-QOL questionnaire.
The aim of this study is investigating the relationship between quality of life and gross motor function in children with cerebral palsy.
The Quality of Life Questionnaire (Cp-QOL) contains 65 questions in seven dimensions: Social well-being and acceptance; Participation and physical health; Functioning; Emotional well-being; Pain and impact of disability; Access to services; and family health.
Demographic data of studied children Demographic Information Age Types of Cerebral Palsy Diplegia Hemiplegia Quadroplegia Athetoid Hypotonia Ataxia As can be seen in table (2), correlation coefficients were calculated between gross motor function and functioning (0.
This means that an increase or decrease in gross motor function in children with CP has a considerable effect on their functioning, social well- being and acceptance, participation and physical health, pain and impact of disability, access to services, but not on the emotional well-being and family health domains of QOL.
However, studies based on parents' reports which were conducted in the past decade to evaluate QOL demonstrated a non-significant relationship between gross motor function and the psychosocial domains of QOL (11).
As the results of this study show, there is a significant relationship between motor function and all domains of QOL except for emotional well-being and self-esteem, and family health (which are psychosocial aspects) (Table 2).
Conclusion This is a limited study to examine the correlation between motor function and QOL domains for children with CP, using a specific Cerebral Palsy- QOL instrument.