NOVEL HOMOZYGOUS VARIANT OF TBC1 DOMAIN FAMILY MEMBER 8 GENE IN FOUR LIBYAN SIBLINGS WITH AUTISTIC SPECTRUM DISORDER AND INTELLECTUAL DISABILITY WITHOUT EPILEPSY

Objective: Recent progress in genetic analysis and investigations have enabled researchers to identify potential genetic changes that may play a role in ASD. The number of genes connected with autism is growing. Whole exome sequencing(WES) identified the homozygous TBC1D8 variant. Aim to report for the first time a TBC1D8 missense variant (c.1883G>A, p. (Arg628Gln) in 4 Libyan children (3 homozygous,1 heterozygous) with severe neurodevelopmental phenotypes ASD and intellectual disability ID . Based on the data of HGMD and ClinVar, variants in only a few autosomal recessive intellectual disability ARID genes seem to be reported frequently. Method: Molecular genetic analysis of (WES) was carried out on blood samples from these children. The outcome of the genetic investigations was interpreted within the context of clinical finding, family history, and suspected mode of inheritance. Results: The number of genes associated with autism is increasing. WES identified the TBC1D8 variant. According to the longest isoform (NM_001102426.1),the nomenclature of this variant is c.1883G>A, p. (Arg628Gln) in TBC1D8 which leads to an amino acid exchange. This variant has not previously reported or described in the literature (PubMed, HGMD). Conclusion: we have provided evidence for a connection between TBC1D8 variant and ASD and ID; however, this evidence should be considered preliminary in the context of a single case report and such findings need to be replicated to gain insight in order to determine if ASD and ID are a characteristic of this variant

Auditing the attitude and knowledge of parents of children with febrile seizures

Introduction Febrile seizures are the most common seizure disorder in children. Most studies on the knowledge, attitude and practice towards children with febrile seizures have been taken in western countries. Little is known on the knowledge, attitude and practice of mothers regarding febrile seizures in Tripoli, Libya.Aims Most parents witnessing their child’s first febrile seizures find it a frightening experience and a significant number think that their child is going to die. In their panic parent’s initial reaction are often inappropriate. It is recommended that parents should be taught how to cope with the recurrence by explaining the pathophysiology of the condition and give written information about the condition and its managements. The aim of the audit is to assess the attitude and knowledge of parents of children with febrile seizures before and after the introduction of the information leaflets regarding febrile seizures.Method The parents of all children in the study period (2007 & 2008) admitted to Paediatric ward Al-Khadra hospital Tripoli, Libya with diagnostic code for febrile seizures were interviewed. A well prepared questionnaire was completed by parents of each child admitted with diagnostic code for febrile seizures. Total number of children admitted to the Pediatric ward in 2007 was 1506 of which 126 were diagnosed as Febrile Seizures (7.9%), and were selected randomly. Total number of children admitted to the Pediatric ward in 2008 were 1849 of which 113 were diagnosed as Febrile Seizures (6.1%), and were selected randomly. 11 out of 113 had recurrent episodes of febrile seizures. An organized and comparative prospective study was done to obtain the results before and after the introduction of the information leaflet.Results The population sample was generally a mixture of urban and rural civilians with average level of education and employment. The majority of febrile seizure cases that were admitted to our department in 2007 & 2008 were found to be of equal sex incidence. The peak age for febrile seizures in patients that were included in this study were found to be between 5-12 months representing (44%) in 2007 & (29%) in 2008. The attitude of mothers before and after the introduction of the information leaflet did not change significantly. Their practice, however, were still inappropriate.Conclusion Parents of children being treated for febrile seizures had a variety of different answers when asked to describe their action when their child had a fit. Our study suggests clues regarding parent’s anxiety and fear when witnessing a seizure. These include: Lack of Knowledge about the disease and lack of education regarding first aid and basic life support. This study is limited by the relatively small sample size. The study results do however describe prevalent views of the disease and provide indications regarding the connection between education, knowledge, and attitude of parents of children with febrile seizures