RESUMO
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. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur. Sudan is inhabited by genetically diverse populations, yet it has high consanguinity rates. We used next-generation sequencing, genotyping, bioinformatics analysis, and candidate gene approaches to study 90 affected patients from 38 unrelated Sudanese families segregating multiple forms of SCDs. The age-at-onset in our cohort ranged from birth to 35 years; however, most patients manifested childhood-onset diseases (the mean and median ages at onset were 7.5 and 3 years, respectively). We reached the genetic diagnosis in 63% and possibly up to 73% of the studied families when considering variants of unknown significance. Combining the present data with our previous analysis of 25 Sudanese HSP families, the success rate reached 52-59% (31-35/59 families). In this article we report candidate variants in genes previously known to be associated with SCDs or other phenotypically related monogenic disorders. We also highlight the genetic and clinical heterogeneity of SCDs in Sudan, as we did not identify a major causative gene in our cohort, and the potential for discovering novel SCD genes in this population.
RESUMO
Mental health is a key component of health, yet appropriate care is limited. Evidence concerning child and adolescent mental health has predominantly come from western countries, while the Middle East region, with a large youth population, has reported very little on it. This original, cross-sectional study of child and adolescent psychiatry in the Middle East provides an assessment of current postgraduate programs, services and what is needed to build workforce capacity. Academic psychiatrists from 16 Middle East countries were invited to form a Consortium to map current postgraduate training as one of the determinants of available child and adolescent psychiatry services, identify gaps in the distribution of child and adolescent psychiatrists, and propose potential steps to improve access to child and adolescent mental health care. The study collected data from 15 of the 16 countries invited (no data provided from Yemen). The study revealed underdeveloped child and adolescent psychiatry academic systems throughout the region. Despite recognition of the specialty in a majority of the countries (11/15), only six countries had established a designated child and adolescent psychiatry training program. The overall shortage of child and adolescent mental health specialists varied, yet all Consortium members reported a need for additional child and adolescent psychiatry specialists and allied professionals. Lack of child and adolescent psychiatry specialized programs in place throughout the region has evidently contributed to the shortage of qualified child and adolescent mental health workforce in the Middle East.
