Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder

Abdelrahman, Hadeel M.; Sherief, Laila M.; Alghobashy, Ashgan Abdallah; Salam, Sanaa M. Abdel; Hashim, Haitham M.; Fattah, Nelly R. Abdel; Mohamed, Randa H.

doi:10.1016/j.ridd.2014.10.023

Cited by 11 publications

(8 citation statements)

References 31 publications

(31 reference statements)

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“…In addition, the inventory allows for branching into specific types of symptoms (abdominal pain, abnormal bowel movements, reflux, and food insensitivity), which allows for the estimation of these symptom categories. Unfortunately, the tool has not been validated (Mazurek et al, 2013; Mazefsky et al, 2014; Abdelrahman et al, 2015). The strengths of this questionnaire are that it provides information on duration of symptoms, assesses a number of GI symptoms, and queries behaviors that might be reflective of GI distress.…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal symptoms in autism spectrum disorder: A review of the literature on ascertainment and prevalence

et al. 2017

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There is no standard approach to measuring GI symptoms in individuals with ASD, despite postulated interactions. The objectives of this study were to (a) describe the range of GI symptom ascertainment approaches in studies of ASD, (b) describe the range of prevalence estimates across studies, and (c) assess associations between ascertainment approach and prevalence estimates. Studies published from 1/1/1980 to 1/31/2017 were collected via PubMed. Eligibility included studies with at least ten individuals with ASD that measured GI symptoms or conditions. We excluded review and hypothesis papers. We extracted information on study design, GI symptom ascertainment method, demographics, and ASD diagnostic criteria. From a subset of studies, we extracted GI symptom estimates. Out of a possible 386 titles, 144 were included. The prevalence range for constipation was 4.3-45.5% (median 22%), for diarrhea was 2.3-75.6% (median 13.0%), and for any or more than one symptom was 4.2-96.8% (median 46.8%). GI symptoms differed significantly by age of individuals, primary goal of study, study design, study sample, and who reported symptoms (P < .05). Due to small sample size, we were not able to test for associations between every GI symptom and study characteristic of interest, or examine associations between GI symptoms and intellectual or verbal disability. Studies used a broad range of methods to ascertain GI symptoms in ASD. GI symptoms varied widely across these studies, with significant differences by study characteristics. Our findings highlight the need for a reliable, valid GI assessment tool to be used consistently across studies of ASD. Autism Res 2018, 11: 24-36. V C 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary:We reviewed studies having to do with autism spectrum disorder and the gastrointestinal system, dating back to 1980. We found that the median prevalence of constipation was 22.2%, diarrhea 13.0%, and any symptom 46.8%. All symptoms had a wide range of estimates across studies. GI symptoms were associated with characteristics of the study, including who measured the GI symptoms. We call for the development of a reliable and valid GI questionnaire for studies of ASD.

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Section: Discussionmentioning

confidence: 99%

Gastrointestinal symptoms in autism spectrum disorder: A review of the literature on ascertainment and prevalence

et al. 2017

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“… 12 , 16 – 18 Candidate genes include, among others, MeCP2 (Xq28; Rett syndrome), HOXA-1 (7p15.3) and HOXB-1 (7q21.32; embryonal development of the rhombencephalon), EN2 (7q36.3; developmental regulation of the cerebellum), FOXP-2 (7q31.1; speech disorder), WNT2 (7q31-33; fetal development and social deficits), 5-HTT (17q11.1-q12; hyperserotonemia), GABRA3 (15q11-q13; GABAergic neurotransmission), OXTR 2 (3p26.2; decreased serum oxytocin levels), ASL (22q13.1-q13.2; impairment of purine biosynthesis), and PTEN (macrocephaly, tumor growth). 4 , 16 , 19 – 22 Other mono-genetic disorders, such as fragile X syndrome, tuberous sclerosis, Down’s syndrome, phenylketonuria, neurofibromatosis type I, or Angelman syndrome, are found in 10%–15% of patients with ASD. 23 Newer and newer genetic testing techniques and technologies are being used to investigate ASD and to develop a screening test which could help identify and diagnose ASD at a much earlier age than what is currently possible.…”

Section: Introductionmentioning

confidence: 99%

Gastrointestinal symptoms and autism spectrum disorder: links and risks – a possible new overlap syndrome

Wasilewska

Klukowski

2015

PHMT

137

113

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Autism spectrum disorder (ASD) is a genetically determined neurodevelopmental brain disorder presenting with restricted, repetitive patterns of behaviors, interests, and activities, or persistent deficits in social communication and social interaction. ASD is characterized by many different clinical endophenotypes and is potentially linked with certain comorbidities. According to current recommendations, children with ASD are at risk of having alimentary tract disorders – mainly, they are at a greater risk of general gastrointestinal (GI) concerns, constipation, diarrhea, and abdominal pain. GI symptoms may overlap with ASD core symptoms through different mechanisms. These mechanisms include multilevel pathways in the gut–brain axis contributing to alterations in behavior and cognition. Shared pathogenetic factors and pathophysiological mechanisms possibly linking ASD and GI disturbances, as shown by most recent studies, include intestinal inflammation with or without autoimmunity, immunoglobulin E-mediated and/or cell-mediated GI food allergies as well as gluten-related disorders (celiac disease, wheat allergy, non-celiac gluten sensitivity), visceral hypersensitivity linked with functional abdominal pain, and dysautonomia linked with GI dysmotility and gastroesophageal reflux. Dysregulation of the gut microbiome has also been shown to be involved in modulating GI functions with the ability to affect intestinal permeability, mucosal immune function, and intestinal motility and sensitivity. Metabolic activity of the microbiome and dietary components are currently suspected to be associated with alterations in behavior and cognition also in patients with other neurodegenerative diseases. All the above-listed GI factors may contribute to brain dysfunction and neuroinflammation depending upon an individual patient’s genetic vulnerability. Due to a possible clinical endophenotype presenting as comorbidity of ASD and GI disorders, we propose treating this situation as an “overlap syndrome”. Practical use of the concept of an overlap syndrome of ASD and GI disorders may help in identifying those children with ASD who suffer from an alimentary tract disease. Unexplained worsening of nonverbal behaviors (agitation, anxiety, aggression, self-injury, sleep deprivation) should alert professionals about this possibility. This may shorten the time to diagnosis and treatment commencement, and thereby alleviate both GI and ASD symptoms through reducing pain, stress, or discomfort. Furthermore, this may also protect children against unnecessary dietary experiments and restrictions that have no medical indications. A personalized approach to each patient is necessary. Our understanding of ASDs has come a long way, but further studies and more systematic research are warranted.

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“…Psychophysiological studies have found that children with ASD have atypical autonomic responses to anxiety, 41 and this relationship between altered autonomic nervous system functioning, stress responses and GI symptoms may be another potential mechanism underlying an ASD-GI subgroup. 31 These different potential mechanisms may, in turn, be related to the genetic causes underlying ASD, such as the involvement of the c-MET, 42,43 CHD8, 44,45 and Serotonin (5HT) systems, 11,46,47 all of which have wide ranging effects on biological processes ranging from intestinal functions, immune functions, and brain development, and are related to complex behavior such as emotional reactivity, anxiety and depressive behavior as well as cognition. 48 Children with ASD and GI symptoms may therefore be a subgroup to focus on for further etiological exploration.…”

Section: Discussionmentioning

confidence: 99%

<p>Gastrointestinal Problems in Chinese Children with Autism Spectrum Disorder</p>

Lai¹,

Leung²,

Hung³

et al. 2020

NDT

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Purpose Gastrointestinal symptoms in individuals with autism spectrum disorder may constitute a subgroup with complex gut-brain interactions underlying the pathogenesis. This study examined the prevalence of gastrointestinal symptoms in a sample of Chinese children with autism spectrum disorder, as well as the factors related to them. Participants and Methods The participants included a clinic sample of 107 children with autism spectrum disorder and 249 gender- and age-matched typically developing community children. Results Results found children with autism spectrum disorder to be twice as likely to suffer from gastrointestinal symptoms, reporting increased rates of constipation, abdominal migraine and aerophagia. Autism spectrum disorder diagnosis remained a significant predictor of gastrointestinal symptoms after taking into account the potential confounders that included comorbid psychopathologies, diets, and parental anxiety and depression. Conclusion Our results suggest that autism spectrum disorder with gastrointestinal symptoms may constitute a subgroup within the autism spectrum disorder population that warrants further investigation.

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Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder

Cited by 11 publications

References 31 publications

Gastrointestinal symptoms in autism spectrum disorder: A review of the literature on ascertainment and prevalence

Gastrointestinal symptoms in autism spectrum disorder: A review of the literature on ascertainment and prevalence

Gastrointestinal symptoms and autism spectrum disorder: links and risks – a possible new overlap syndrome

<p>Gastrointestinal Problems in Chinese Children with Autism Spectrum Disorder</p>

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Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder

Cited by 11 publications

References 31 publications

Gastrointestinal symptoms in autism spectrum disorder: A review of the literature on ascertainment and prevalence

Gastrointestinal symptoms in autism spectrum disorder: A review of the literature on ascertainment and prevalence

Gastrointestinal symptoms and autism spectrum disorder: links and risks &ndash; a possible new overlap syndrome

<p>Gastrointestinal Problems in Chinese Children with Autism Spectrum Disorder</p>

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Gastrointestinal symptoms and autism spectrum disorder: links and risks – a possible new overlap syndrome