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1.
Asian J Psychiatr ; 71: 103054, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35248844

RESUMO

OBJECTIVES: We aimed to estimate the prevalence of autism spectrum disorder between 2 and 4 years old in Riyadh, Saudi Arabi Methods: A cross-sectional study was conducted among Saudi children aged 2-4 years between December 2017 and March 2018 at five different hospitals in Riyadh. RESULTS: A Total of 398 children were included. The prevalence of ASD was estimated to be (2.51%, 1:40, 25 per 1000)), with a male to female ratio of 3:1. CONCLUSION: The estimated high prevalence rate of ASD is close to recent trends in international studies. Future population-based studies are required.


Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Hospitais , Humanos , Masculino , Prevalência , Arábia Saudita/epidemiologia
2.
Am J Med Genet A ; 185(12): 3859-3865, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34327814

RESUMO

Intellectual disability (ID) is one of the most common disabilities in humans. In an effort to contribute to the expanding genetic landscape of ID, we describe a novel autosomal recessive ID candidate gene. Combined autozygome/exome analysis was performed in two unrelated consanguineous families with ID. Each of the two families had a novel homozygous likely deleterious variant in PLXNA2 and displayed the core phenotype of ID. PLXNA2 belongs to a family of transmembrane proteins that function as semaphorin receptors. Sema5A-PlexinA2 is known to regulate brain development in mouse, and Plxna2-/- mice display defective associative learning, sociability, and sensorimotor gating. We note the existence of variability in the phenotype among the three patients, including the existence of variable degree of ID, ranging from borderline intellectual functioning to moderate-severe ID, and the presence of cardiac anomalies in only one of the patients. We propose incomplete penetrance as a possible explanation of the observed difference in phenotypes. Future cases will be needed to support the proposed link between PLXNA2 and ID in humans.


Assuntos
Predisposição Genética para Doença , Deficiência Intelectual/genética , Proteínas do Tecido Nervoso/genética , Receptores de Superfície Celular/genética , Animais , Criança , Pré-Escolar , Consanguinidade , Exoma/genética , Feminino , Estudos de Associação Genética , Homozigoto , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Camundongos , Camundongos Knockout , Mutação/genética , Linhagem
3.
Artigo em Inglês | MEDLINE | ID: mdl-33557914

RESUMO

BACKGROUND: We recently adapted the published National Institute for Health and Care Excellence (NICE) Attention deficit hyperactivity disorder (ADHD) diagnosis and management guideline to the Saudi Arabian context. It has been postulated that adaptation of evidence-based clinical practice guidelines to the local healthcare context rather than de-novo development will improve their adoption and implementation without imposing a significant burden on resources. The objective of this paper is to describe the adaptation process methodology utilized for the generation of the first national guideline for management of people with ADHD in Saudi Arabia. METHODS: We used the KSU-Modified-ADAPTE methodology for the guideline adaptation process. We describe the full process in detail including the three phases of set-up, adaptation, and finalization. The process was conducted by a multidisciplinary guideline adaptation group in addition to an external review for the clinical content and methodology. RESULTS: The group adapted ten main categories of recommendations from one source CPG (NICE). The recommendations include: (i) service organisation and training, (ii) recognition, identification and referral, (iii) diagnosis, (iv) support, (v) managing ADHD, (vi) dietary advice, (vii) medication, (viii) maintenance and monitoring, (ix) adherence to treatment, and (x) review of medication and discontinuation. Several implementation tools were compiled and developed to enhance implementability including a clinical algorithm, quality measures, coding system, medication tables, translations, patient information, and online resources. CONCLUSIONS: The finalized clinical practice guideline provides healthcare providers with applicable evidence-based guidance for the management of people with ADHD in Saudi Arabia. The project also demonstrated the effectiveness of KSU-Modified-ADAPTE, and emphasized the value of a collaborative clinical and methodological expert group for adaptation of national guidelines.

4.
Neurosci Biobehav Rev ; 128: 789-818, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33549739

RESUMO

BACKGROUND: Misconceptions about ADHD stigmatize affected people, reduce credibility of providers, and prevent/delay treatment. To challenge misconceptions, we curated findings with strong evidence base. METHODS: We reviewed studies with more than 2000 participants or meta-analyses from five or more studies or 2000 or more participants. We excluded meta-analyses that did not assess publication bias, except for meta-analyses of prevalence. For network meta-analyses we required comparison adjusted funnel plots. We excluded treatment studies with waiting-list or treatment as usual controls. From this literature, we extracted evidence-based assertions about the disorder. RESULTS: We generated 208 empirically supported statements about ADHD. The status of the included statements as empirically supported is approved by 80 authors from 27 countries and 6 continents. The contents of the manuscript are endorsed by 366 people who have read this document and agree with its contents. CONCLUSIONS: Many findings in ADHD are supported by meta-analysis. These allow for firm statements about the nature, course, outcome causes, and treatments for disorders that are useful for reducing misconceptions and stigma.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Humanos , Metanálise em Rede , Viés de Publicação
6.
Int J Pediatr Adolesc Med ; 4(3): 91-94, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30805508

RESUMO

OBJECTIVES: The aim of the study was to 1) determine the prevalence of Attention Deficit Hyperactivity Disorder (ADHD) among both governmental and private primary Saudi school children, 2) measure the gender difference of ADHD prevalence, and 3) determine any association between the socio-demographic characteristic of the parents of children with ADHD. METHODS: This is an observational cross-sectional study of 1000 primary school children belonging to 1st, 2nd and 3rd grade. The selected students were screened by the ADHD rating scale using multistage sampling technique. The first stage was selection of 20 schools from all Riyadh regions by simple randomization. The second stage was choosing children whom serial numbers were multiples of five in each class. The ADHD rating scale was filled by both parents and teachers along with a socio-demographic questionnaire for the parents. RESULTS: The estimated prevalence of ADHD was 3.4%. ADHD manifestations affect boys more than girls. In addition, ADHD was more frequent among children of illiterate mothers. Finally, ADHD was significantly more prevalent among first grade children. CONCLUSION: This epidemiological study filled the data gap of ADHD prevalence in Riyadh. The study's findings go in line with many nearby and global studies.

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