Review Article
Effect of Genetics on Autism Spectrum Disorders: A Review Study
Raneem Nabil Halaweh*
Issue:
Volume 8, Issue 4, December 2024
Pages:
47-53
Received:
18 October 2024
Accepted:
4 November 2024
Published:
26 November 2024
Abstract: Autism Spectrum Disorders (ASD) are intricate neurodevelopmental conditions marked by challenges in social interaction, communication, and repetitive behaviors. The etiology of ASD is multifaceted, involving genetic mutations, perinatal, nutritional and environmental factors. This review explores the various genetic mutations implicated in the development of ASD for the purpose of examining the diverse genetic factors contributing to the pathogenesis of ASD such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes. A comprehensive review of literature was conducted to gather information on genetic influences related to ASD. Studies investigating the complex interplay of those factors were analyzed to elucidate how they contribute to the development of ASD. Results found that genetic mutations in genes like Shank3 and SCGN have been identified as playing a role in the pathogenesis of ASD through their impact on glutamic excitatory pathways and oxytocin signaling. ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes have also been linked to an increased risk of ASD and associated cognitive and neurological impairments. In conclusion, research on different genetic mutations and deletions affecting autism spectrum disorder (ASD) highlights the complexity of the disease. Key genes such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, and KMT2C are implicated, each contributing uniquely to ASD. Genetic variations, mutations, and heritability play significant roles, with factors like zinc deficiency and advanced paternal age also linked to increased ASD risk. While genomic technology has identified specific markers and pathways, the effect of multiple genetic mutations on symptom severity remains unclear. Understanding these genetic factors is crucial for improving diagnostic precision and developing targeted therapies, necessitating continued interdisciplinary research.
Abstract: Autism Spectrum Disorders (ASD) are intricate neurodevelopmental conditions marked by challenges in social interaction, communication, and repetitive behaviors. The etiology of ASD is multifaceted, involving genetic mutations, perinatal, nutritional and environmental factors. This review explores the various genetic mutations implicated in the deve...
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Case Report
Polycystic Ovary Syndrome (PCOS) an Emerging Risk Factor of Cerebral Venous Sinus Thrombosis (CVST):
A Case Report and Literature Review
Gloire Chubaka Magala*,
Arlette Désirée Aka,
Fiacre Delors Offoumou,
Muriel Amon-Tanoh,
Cédric Valery Kadjo,
Marceline Sifa Balungwe,
Abel Christian Tanoh,
Constance Yapo-Ehounoud,
Mariam Doumbia-Ouattara,
Paulette Yapo-Yapi Chia,
Évelyne Aka-Anghui Diarra,
Berthe Assi
Issue:
Volume 8, Issue 4, December 2024
Pages:
54-60
Received:
20 November 2024
Accepted:
2 December 2024
Published:
23 December 2024
DOI:
10.11648/j.cnn.20240804.12
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Abstract: Cerebral venous sinus thrombosis (CVST) is responsible for about 0.5% to 3% of all strokes, with a markedly higher frequency noted in young women. This condition is determined by several factors; in addition to established risk factors, new contributors that have become better recognized but less well-documented in the tropics include obesity, polycystic ovary syndrome (PCOS), COVID-19 infection, and vaccine-associated thrombocytopenia and thrombosis. We describe the third known case, and the first described in Africa, of CVST in a woman with PCOS and no recognizable pro-thrombotic disorder. A 42-year-old female patient, right-handed, nulligest, and obese presented with a history of infertility and menstrual cycle disorders. She was admitted to our department due to the onset of atypical headaches that progressed subacutely and were associated to generalized tonic-clonic seizures. Neurological assessment upon admission revealed intracranial hypertension syndrome. Brain MRI showed extensive CVST on the left side, involving the lateral sinus and the internal jugular vein. The diagnosis of PCOS was made according to the Rotterdam criteria. A multidisciplinary management strategy was implemented. Comprehensive studies are essential to elucidate the factors associated with CVST in women diagnosed with PCOS, which will facilitate risk assessment and the formulation of preventive measures.
Abstract: Cerebral venous sinus thrombosis (CVST) is responsible for about 0.5% to 3% of all strokes, with a markedly higher frequency noted in young women. This condition is determined by several factors; in addition to established risk factors, new contributors that have become better recognized but less well-documented in the tropics include obesity, poly...
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