A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, impaired intellectual development, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings born from a consanguineous, first-cousin union from Sudan presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of -related disorders caused by missense changes.

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in are known to cause cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment and overlap with many neurological conditions, including neurodevelopmental disorders. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known.

Methylation of alpha-synuclein in a Sudanese cohort.

Background: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies have been carried out in this field in Africa and none in Sudan.

Materials And Methods: We collected DNA from 172 Sudanese individuals (90 cases, 82 controls) who donated saliva for DNA extraction (mean age of onset: 40.

Knowledge, attitudes, and practices of caregivers of children with epilepsy in Sudan.

Objective: To explore the knowledge, attitudes, and practices of caregivers of children with epilepsy.

Methods: This cross-sectional study included 107 consecutive caregivers of children diagnosed with epilepsy, attending the neurology outpatient clinic in a Pediatric tertiary university hospital, in Khartoum, Sudan for regular check-up. Data were obtained by an interviewer through a structured questionnaire, while clinical parameters of children with epilepsy were taken from medical records.

A children's epilepsy diagnosis aid: Development and early validation using a Bayesian approach.

Introduction: The diagnosis of epilepsy in children is difficult and misdiagnosis rates can be as much as 36%. Diagnosis in all countries is essentially clinical, based on asking a series of questions and interpreting the answers. Doctors experienced enough to do this are either scarce or absent in very many parts of the world so there is a need to develop a diagnostic aid to help less-experienced doctors or non-physician health workers (NPHWs) do this.

Utility of WhatsApp in healthcare provision and sharing of medical information with caregivers of children with neurodisabilties: experience from Sudan.

The authors used smart phones and its WhatsApp application, as a means of communication among the team members and caregivers for children with neurodisabilities, for patient consultations and medical information sharing as they are faced by an increasing number of patients coming from all over Sudan. The group included 256 mothers (caregivers) of children with neurodisabilities. The caregivers (mostly mothers) were asked to fill in a simple survey to get a feedback regarding the service offered in the WhatsApp group after taking their permission.

Intelligence quotient (IQ) among children with epilepsy: National epidemiological study - Sudan.

Background: Many studies of selected groups of children with epilepsy have demonstrated an association between epilepsy and cognitive deficits. The aim of this study was to assess the intellectual skills of children with epilepsy and to investigate the influence of gender, age at seizure onset, type of epilepsy, antiepileptic drug used, and control of epilepsy on their intellectual function.

Methods: This is a descriptive prospective study in which one hundred and eighty-seven patients at school age (6-14 years) were recruited.

Classification and management of epilepsy and epileptic syndromes in a cohort of 202 school children- a 2 year follow up study- Sudan.

Background: In this paper, seizure types, and epilepsy syndromes are elucidated as per ILAE (2010) classification. A brief outline of the antiepileptic drug regimens used and the outcome of seizure control in a two -year period is presented. The applicability of the ILAE classification in resource limited countries has been revisited.

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia with elongated cerebellar peduncles leading to the molar tooth sign. While the malformation is reminiscent of bilateral frontoparietal polymicrogyria (BFPP), the phenotype is more severe than previously reported and also includes features of Joubert syndrome (JBTS).

Clinical Profile of Pediatric Neurological Disorders: Outpatient Department, Khartoum, Sudan.

Background: There is no available data from Sudan reflecting the magnitude of the neurological disorders and disabilities in the pediatric age-group. This study aims to evaluate the pattern of neurological disorders among Sudanese children.

Patients And Methods: This is a retrospective survey of children with epilepsy and other neurodisability disorders seen at pediatric neurology outpatient clinic, during the period from January 2007 to August 2013.

Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.

Background: Data on childhood epilepsy in Sudan are scarce and the only published study on its prevalence was published in 1983. This study aimed to determine the current prevalence of epilepsy in school children in Khartoum State.

Methods: This is an analytical population-based, cross-sectional study conducted in Khartoum State, Sudan.

Spectrum of attention deficit hyperactivity disorders (ADHD) among Sudanese children with epilepsy.

Epilepsy is commonly encountered in children with attention deficit hyperactivity disorder (ADHD). This study aims to determine the spectrum of ADHD among Sudanese children with epilepsy. The study was conducted at the Epilepsy and Neurodisabilities Outpatient Clinic for Children at Saad Abu Elila University Hospital, Khartoum, Sudan during the period January - July 2013.

Sudanese female doctors in paediatrics.

Though the number of female medical graduates has increased throughout the world, their postgraduate professional achievements are said to be suboptimal. Our aim is to look into the achievements of Sudanese female pediatricians and compare them with their male counterparts. A cross sectional study was undertaken using a questionnaire involving pediatricians working in the universities and Ministry of Health, Sudan.