scholarly journals Celiac Disease in Autism Spectrum Disorder: Data from an Italian Child Cohort

Author(s):  
Stefania Zambrano ◽  
Barbara Parma ◽  
Valeria Morabito ◽  
Silvia Borini ◽  
Roberta Romaniello ◽  
...  

Abstract Background: In recent decades some studies described the frequent co-occurrence of celiac disease autoimmunity and/or overt celiac disease in patients with autism. Therefore, it was suggested that celiac disease could play a possible role in the etiopathogenesis of autism spectrum disorder. However, several other studies have not confirmed this association. The aim of the present study was to elucidate the potential association between autism spectrum disorder and celiac disease.Methods: We prospectively collected data from an Italian cohort of 223 children at the time of their clinical diagnosis of autism spectrum disorder in the 2019-2020 period. A serological celiac disease screening was performed and data were available for 196 patients; male (M):female (F) ratio = 4.4:1; median age = 3.6 years; age range = 1.6–12.8 years. Full-blown celiac disease was established according to the diagnostic algorithm of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2012 or 2019 guidelines. Fisher’s exact test was used to compare the celiac disease seroprevalence and prevalence in our autism spectrum disorder cohort and in the Italian healthy pediatric population studied by Gatti et al. to highlight the possible differences between the two groups.Results: A not statistically significant difference between the celiac disease seroprevalence in our autism spectrum disorder cohort (4.08%) and Gatti’s Italian healthy group (2.22%) was found, p = 0.0810; OR = 1.871. A similar result emerged for overt celiac disease prevalences (2.24% versus 1.58%, respectively), p = 0.2862; OR = 1.431.Conclusions: Our data validates a weakness of association between autism spectrum disorder and celiac disease. Regular screening for celiac disease in young patients with autism spectrum disorder is not strongly recommended to a greater extent than in the general population.

Author(s):  
Cristiano Termine ◽  
Enzo Grossi ◽  
Valentina Anelli ◽  
Ledina Derhemi ◽  
Andrea E. Cavanna

Abstract Background The association of stereotypies and tics is not rare in children with severe autism spectrum disorder (ASD). The differential diagnosis between stereotypies and tics in this patient population can be difficult; however, it could be clinically relevant because of treatment implications. Methods A total of 108 video recordings of repetitive behaviors in young patients with stereotypies in the context of ASD were reviewed by a movement disorders expert and a trainee, in order to assess the prevalence of possible co-morbid tics. The Modified Rush Videotape Rating Scale (MRVS) was used to rate tic frequency and severity. Results Out of 27 patients with stereotypies (24 males; mean age 14 years), 18 (67%) reported possible tics. The most frequently observed tics were eye blinking, shoulder shrugging, neck bending, staring, and throat clearing. The mean MRVS score was 5, indicating mild tic severity. The only significant difference between patients with tics and patients without tics was the total number of stereotypies, which was higher in the subgroup of patients without tics (p = 0.01). Conclusions Expert review of video-recordings of repetitive behaviors in young patients with ASD and stereotypies suggests the possibility of a relatively high rate of co-morbid tics. These findings need to be integrated with a comprehensive clinical assessment focusing on the diagnostic re-evaluation of heterogeneous motor manifestations.


2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Noriko Numata ◽  
Akiko Nakagawa ◽  
Kazuko Yoshioka ◽  
Kayoko Isomura ◽  
Daisuke Matsuzawa ◽  
...  

Abstract Background Although approximately 23% of anorexia nervosa (AN) patients have concomitant autism spectrum disorder (ASD), it is clinically difficult to determine ASD coexistence in patients with eating disorders. Restrictive AN is more common in younger patients and self-induced vomiting usually appears during adolescence/young adulthood, in order to prevent gaining weight caused by overeating. However, some patients are tolerant of weight gain even if they start overeating. It is important to understand the essential difference between those who vomit and those who do not vomit. In this study, we hypothesised that the absence of self-induced vomiting may be associated with the presence of ASD and aimed to assess the presence of ASD traits in each eating disorder (EDs). Clarifying this association helps to consider the coexistence of ASD in the clinical setting and can lead to the next detailed ASD evaluation, and as a result, helps to determine the appropriate treatment and support individually. Methods We retrospectively evaluated 43 females aged 15–45 years who attended Chiba University Hospital between 2012 and 2016 using the Eating Disorder Examination Questionnaire (EDE-Q) and Autism-Spectrum Quotient (AQ) to quantify the severity of the EDs and to identify whether ASD traits were present. Results There was no difference in the AQ score between bingeing-purging type AN and restricting type AN. However, there was significant difference in the AQ score between bulimia nervosa and binge EDs (BED). Of the 4 ED subtypes, BED had the highest ASD traits. The non-vomiting group with illness duration < 4 years had a significantly higher AQ communication score than the vomiting group with illness duration ≥4 years. Conclusions There was a difference in the AQ score by the presence or absence of self-induced vomiting. The results of this study suggest an association between high scores on AQ and non-vomiting. Thus, evaluation of patients for the absence of self-induced vomiting while assessing them for EDs may help us to understand the association with ASD traits.


2020 ◽  
Author(s):  
Renáta Longauerová

Gestures play an important role in communication, but for populations with atypical language development, gestures are often an area of significant difficulty, especially for individuals with Autism Spectrum Disorder (ASD). Research on younger children with ASD show a significant delay in gesture production, as well as a complete absence of certain types of gestures. However, previous work leaves open the question of whether the frequency and variation of gesture production is impaired also in adolescents with ASD. Moreover, very little is known about the semantic integration of speech and gesture in this population. In the present study, 5 adolescents with ASD and 5 typically-developing adolescents completed a narrative task, in which they were asked to retell a story of 4 animated cartoon clips. The results show that while there is no significant difference between the two groups in the frequency of gesture production and the types of gestures they produce, the frequency of gesture production in the individuals with ASD significantly depends on their verbal working memory skills. Moreover, it seems that many impairments that were confirmed by earlier studies for ASD children in early and late childhood seem to be mere delays that get resolved over time, such as the usage of supplementary gestures.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Amany H. Abdelrahman ◽  
Ola M. Eid ◽  
Mona H. Ibrahim ◽  
Safa N. Abd El-Fattah ◽  
Maha M. Eid ◽  
...  

Abstract Background Autism spectrum disorder is a condition related to brain development that affects a person’s perception and socialization, resulting in problems in social interaction and communication. It has no single known cause, yet several different genes appear to be involved in autism. As a genetically complex disease, dysregulation of miRNA expression and miRNA–mRNA interactions might be a feature of autism spectrum disorder. The aim of the current study was to investigate the expression profile of circulating miRNA-128, miRNA-7 and SHANK gene family in ASD patients and to assess the possible influence of miRNA-128 and miRNA-7 on SHANK genes, which might provide an insight into the pathogenic mechanisms of ASD and introduce noninvasive molecular biomarkers for the disease diagnosis and prognosis. Quantitative real-time PCR technique was employed to determine expression levels of miRNA-128, miRNA-7 and SHANK gene family in blood samples of 40 autistic cases along with 30 age- and sex-matched normal volunteer subjects. Results Our study revealed a statistical significant upregulation of miRNA-128 expression levels in ASD cases compared to controls (p value < 0.001). A statistical significant difference in SHANK-3 expression was encountered on comparing cases to controls (p value < 0.001). However, miRNA-7 expression showed no significant difference between the studied groups. Conclusions MiRNA-128 and SHANK-3 gene are emerging players in the field of ASD. They are promising candidates as noninvasive biomarkers in autism. Future studies are needed to emphasize their pivotal role.


2016 ◽  
Vol 42 (1) ◽  
Author(s):  
Sara Calderoni ◽  
Elisa Santocchi ◽  
Teresa Del Bianco ◽  
Elena Brunori ◽  
Laura Caponi ◽  
...  

2020 ◽  
Author(s):  
Takahira Yamauchi ◽  
Manabu Makinodan ◽  
Michihiro Toritsuka ◽  
Kazuki Okumura ◽  
Yoshinori Kayashima ◽  
...  

Abstract Background The etiology of autism spectrum disorder (ASD) is complex. Its pathobiology is characterized by enhanced inflammatory activities; however, the exact ASD pathobiology remains unclear. Some cases of ASD are difficult to diagnose using existing psychological assessments because the careful exclusion of other psychiatric disorders is challenging. To distinguish between the appropriate targets for interventions and research, the demand for identifying efficient diagnostic biomarkers is increasing. This study aimed to find an inflammatory indicator beneficial for the diagnosis of ASD.Methods Cytokine mRNA expression, including tumor necrosis factor-α (TNF-α), was measured in the differentiated M1 and M2 macrophages of ASD patients (n = 29) and typically developed (TD) individuals (n = 30). TNF-α expression was also measured in the monocytes of ASD patients (n = 7) and TD individuals (n = 6).Results TNF-α expression in M1 macrophages and TNF-α expression ratio of M1/M2 macrophages were markedly higher in ASD patients than in TD subjects; however, this difference was not observed in M2 macrophages (M1: p < 0.01; ratio of M1/M2: p < 0.0001; M2: p > 0.05), suggesting that this indicator could be a useful tool for diagnosing ASD (M1: sensitivity = 34.5%, specificity = 96.7%, area under the curve (AUC) = 0.74, positive likelihood ratio (PLR) = 10.34; ratio of M1/M2: sensitivity = 55.2%, specificity = 96.7%, AUC = 0.79, PLR = 16.55). However, there was no significant difference in the TNF-α expression in monocytes between ASD and TD individuals (p > 0.05).Conclusion These findings suggest that TNF-α expression in differentiated macrophages represents a novel adjunctive tool for the diagnosis of ASD.


2019 ◽  
Author(s):  
Michelle D. Failla ◽  
Lauren K. Bryant ◽  
Brynna H. Heflin ◽  
Lisa E. Mash ◽  
Kim Schauder ◽  
...  

AbstractBackgroundInteroception involves the processing of sensory information relevant to physiological functioning and is integral to building self-awareness, emotional states, and modulating social behaviors. With the role of interoception in emotional processing and social functioning, there is growing interest in characterizing interoception in autism spectrum disorder (ASD), yet, there are mixed results regarding cardiac interoceptive accuracy in ASD.MethodsIn this study, we explored the neural basis of cardiac interoception using an fMRI heartbeat counting task in order to assess neural correlates of primary interoception. We predicted that interoceptive-specific response in the insula, a “hub” for interoception, would be related to ASD symptomatology. We investigated the relationship of insula responses during cardiac interoceptive accuracy and a self/caregiver-reported autism-related symptom scale (Social Responsiveness Scale-2 (SRS)). Participants included 46 individuals with autism spectrum disorder (ASD) (age 8-54, mean= 19.43±10.68 years) and 54 individuals with typical development for comparison (TC, age 8-53, mean= 21.43±10.41 years).ResultsWe found no significant difference in cardiac interoceptive accuracy or neural response to cardiac interoception in ASD. Several insula sudivisons had a curvilinear relationship to age, peaking in early adulthood. Interoceptive-specific insula response was associated with adult self-report SRS scores; this association differed by diagnostic group and self/other report.ConclusionsThis work suggests that 1) there is no global deficit in interoception in ASD, but that integrating interoceptive cues with social information may distinguish individuals with ASD, and 2) there is a developmental trajectory for interoceptive processing in the insula that may be relevant for socio-emotional health.


2019 ◽  
Vol 14 (1) ◽  
pp. 35
Author(s):  
Aliffah Nurria Nastiti ◽  
Juliana Christyaningsih

Children with Autism Spectrum Disorder (ASD) have digestive disorders, therefore their diet should be gluten-free and casein-free. Gluten-free and casein-free foods tend to be low in protein. ASD children who apply a gluten-free diet and casein have a lower calcium intake and low in bone density. Catfish flour with high protein and calcium content were expected to increase the nutritional value (protein and calcium) of cookies which gluten-free and casein-free. This study was aimed to determine the effect of catfish flour substitution towards acceptance and nutritional value of gluten and casein free cookies as an alternative snack for ASD children. This study was experimental research with Completely Randomized Design. Panelists of this study were children with ASD (4-6 years) and their parents as many as 40 people. There were 4 formulas in this study, F0 was control, and 3 substitution formulas. Percentage of Flour substitution were, F2 (2%: 2%); F3 (4%: 4%); and F5 (6%: 4%). Kruskal Wallis test showed no significant difference in the level on acceptance level in taste and aroma between F0, F3, and F5. The acceptability and nutritional value's ranking showed the best formula was F5. 100 grams of F5 cookies (protein: 6.75 g; calcium: 247.51 mg) can fulfill 19% of the protein and 24.8% calcium of children RDA (4-6 years). Gluten-free and casein-free cookies with catfish (Formula 5) with enough protein and high calcium can be an alternative snack for ASD children.


2013 ◽  
Vol 2 (4) ◽  
pp. 696-703
Author(s):  
Yustisia Risti ◽  
Arintina Rahayuni

Latar Belakang : Penyandang  autism spectrum disorder (ASD) dan celiac disease tidak dapat menerima gluten yang masuk kedalam tubuh. Mi merupakan salah satu makanan pokok sumber karbohidrat yang terbuat dari gandum. Gandum memiliki kandungan gluten yang tinggi, sedangkan mi adalah makanan pokok terbanyak kedua setelah nasi. Salah satu alternatif bahan makanan sumber karbohidrat yang bebas gluten adalah singkong. Olahan singkong yaitu mocaf dan tepung tapioka memiliki sifat fisik yang menyerupai tepung terigu sehingga diharapkan dapat menggantikan tepung terigu dalam pembuatan mi. Singkong memiliki kadar protein yang rendah, oleh karena itu dilakukan penelitian mengenai penambahan jumlah telur terhadap kadar protein mi basah bebas gluten agar sesuai dengan standar nasional indonesia (SNI) yaitu 8%, serat, tingkat kekenyalan dan penerimaan mi basah bebas gluten berbahan baku tepung komposit ( tepung mocaf, tapioka dan maizena).Tujuan : Menganalisis pengaruh penambahan telur terhadap kadar protein, serat, tingkat kekenyalan dan penerimaan mi basah bebas gluten berbahan baku tepung komposit.Metode : Merupakan penelitian eksperimental dengan rancangan acak lengkap, dengan 4 perlakuan menggunakan 1 kontrol dan 3 variasi penambahan jumlah telur (5 butir telur, 6 butir telur, 7 butir telur). Analisis laboratorium yang dilakukan adalah uji kadar protein, serat dan tingkat kekenyalan. Uji tingkat penerimaan dilakukan dengan uji hedonik pada 20 orang panelis agak terlatih. Analisis statistik kadar protein, kadar serat dan tingkat kekenyalan diuji menggunakan uji ANOVA One Way CI 95% dengan uji lanjut LSD (Least Significance Different). Analisis statistik untuk tingkat penerimaan menggunakan uji Friedman CI 95% dengan uji lanjut Wilcoxon.Hasil : Penambahan jumlah telur mempengaruhi kadar protein, serat dan tingkat kekenyalan mi basah bebas gluten. Penambahan jumlah telur juga mempengaruhi tingkat penerimaan dari segi warna dan tekstur tetapi tidak mempengaruhi aroma dan rasa. Hasil penilaian terbaik didapat pada mi basah bebas gluten berbahan baku tepung komposit dengan 5 butir telur dengan kadar protein 7,66%, serat 0,84% dan tingkat kekenyalan 41,83 mm/g/detik.Simpulan : Mi basah bebas gluten berbahan baku tepung komposit dengan 5 butir telur merupakan mi terbaik dan dapat diterima oleh panelis. Mi basah tersebut menyumbang asupan serat sebesar 3,36% untuk wanita dewasa, 2,21% untuk pria dewasa dan 4,42% untuk anak-anak.


2020 ◽  
Author(s):  
Noriko Numata ◽  
Akiko Nakagawa ◽  
Kazuko Yoshioka ◽  
Kayoko Isomura ◽  
Daisuke Matsuzawa ◽  
...  

Abstract Background: Although approximately 23% of anorexia nervosa (AN) patients have concomitant autism spectrum disorder (ASD), it is clinically difficult to determine ASD coexistence in patients with eating disorders. Restrictive AN is more common in younger patients and self-induced vomiting usually appears during adolescence/young adulthood, in order to prevent gaining weight caused by overeating. However, some patients are tolerant of weight gain even if they start overeating. It is important to understand the essential difference between those who vomit and those who do not vomit. In this study, we hypothesised that the absence of self-induced vomiting may be associated with the presence of ASD and aimed to assess the presence of ASD traits in each eating disorder (EDs). Clarifying this association helps to consider the coexistence of ASD in the clinical setting and can lead to the next detailed ASD evaluation, and as a result, helps to determine the appropriate treatment and support individually.Methods: We retrospectively evaluated 43 females aged 15–45 years who attended Chiba University Hospital between 2012 and 2016 using the Eating Disorder Examination Questionnaire (EDE-Q) and Autism-Spectrum Quotient (AQ) to quantify the severity of the EDs and to identify whether ASD traits were present.Results: There was no difference in the AQ score between bingeing-purging type AN and restricting type AN. However, there was significant difference in the AQ score between bulimia nervosa and binge EDs (BED). Of the 4 ED subtypes, BED had the highest ASD traits. The non-vomiting group with illness duration <4 years had a significantly higher AQ communication score than the vomiting group with illness duration ≥ 4 years.Conclusions: There was a difference in the AQ score by the presence or absence of self-induced vomiting. The results of this study suggest an association between high scores on AQ and non-vomiting. Thus, evaluation of patients for the absence of self-induced vomiting while assessing them for EDs may help us to understand the association with ASD traits.


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