Pubmed du 23/03/24
1. Abbas A, Fayoud AM, El Din Moawad MH, Hamad AA, Hamouda H, Fouad EA. Safety and efficacy of trofinetide in Rett syndrome: a systematic review and meta-analysis of randomized controlled trials. BMC Pediatr. 2024; 24(1): 206.
INTRODUCTION: Rett syndrome is a rare genetic neurodevelopmental disorder that predominantly impacts females. It presents with loss of acquired skills, impaired communication, and stereotypic hand movements. Given the limited treatment options for Rett syndrome, there is a dire need for effective interventions. OBJECTIVE: To evaluate the safety and efficacy of trofinetide in Randomized Controlled Trials (RCTs) that report on Rett syndrome patients. METHODS: We identified 109 articles from four databases (Scopus, PubMed, Web of Science, and Cochrane CENTRAL). After removing the duplicates, we narrowed them down to 59 articles for further assessment. We included RCTs that evaluated the efficacy and safety of trofinetide in patients with Rett syndrome. Three studies were eligible for inclusion. Two independent reviewers evaluated the identified studies’ titles, abstracts, and full texts, extracting pertinent data. We assessed the quality of the studies using the Cochrane Risk of Bias (RoB) 2.0 tool. We then conducted a meta-analysis using the fixed effects model in the case of insignificant heterogeneity; otherwise, we used the random effects model. Based on the nature of the outcome, we analyzed the mean difference or the odds ratio. Analysis was conducted using RevMan version 5.3. RESULTS: Among the analyzed outcomes in 181 patients in the trofinetide group and 134 patients in the placebo group, significant improvement in Rett Syndrome Behavior Questionnaire (RSBQ) scores was observed at 200 mg dosage (overall mean difference: -3.53, p = 0.001). Clinical Global Impression-Improvement (CGI-I) scores improved considerably at 200 mg dosage (overall mean difference: -0.34, p < 0.0001). No substantial changes were observed in Motor Behavioral Assessment (MBA) or Top 3 Caregiver Concerns. We evaluated Treatment Emergent Adverse Events (TEAEs) across the various dosages and noted significant associations with diarrhea (200 mg), vomiting (200 mg), and irritability (200 mg). However, we did not find a significant association between any of the dosages and the incidence of decreased appetite. CONCLUSION: Trofinetide demonstrated potential in improving RSBQ and CGI-I scores at 200 mg dosage. Although no substantial changes were found in MBA and top 3 caregiver concerns. Adverse events were linked to specific dosages.
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2. Sirrianni J, Hanks C, Rust S, Hart LC. Continuation of Pediatric Care after Transfer to Adult Care Among Autistic Youth Overlap of Pediatric and Adult Care. J Autism Dev Disord. 2024.
The transition from pediatric to adult health care is a vulnerable time period for autistic adolescents and young adults (AYA) and for some autistic AYA may include a period of receiving care in both the pediatric and adult health systems. We sought to assess the proportion of autistic AYA who continued to use pediatric health services after their first adult primary care appointment and to identify factors associated with continued pediatric contact. We analyzed electronic medical record (EMR) data from a cohort of autistic AYA seen in a primary-care-based program for autistic people. Using logistic and linear regression, we assessed the relationship between eight patient characteristics and (1) the odds of a patient having ANY pediatric visits after their first adult appointment and (2) the number of pediatric visits among those with at least one pediatric visit. The cohort included 230 autistic AYA, who were mostly white (68%), mostly male (82%), with a mean age of 19.4 years at the time of their last pediatric visit before entering adult care. The majority (n = 149; 65%) had pediatric contact after the first adult visit. Younger age at the time of the first adult visit and more pediatric visits prior to the first adult visit were associated with continued pediatric contact. In this cohort of autistic AYA, most patients had contact with the pediatric system after their first adult primary care appointment.
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3. Stringfellow MK, Fields NL, Lee K, Anderson KA, Brokaw E. Healthy Aging and Older Adults with Autism: A Scoping Review. Gerontologist. 2024.
BACKGROUND AND OBJECTIVES: Autism Spectrum Disorder (ASD) is a lifelong diagnosis. While several studies have examined the effects of autism throughout childhood, few have considered older adulthood and the difference between the allistic (i.e., persons who are not autistic) population and autistic older adults. In literature regarding healthy aging, there is sparse evidence regarding the intersections of older adulthood and autism. The purpose of this scoping review was to examine the state of literature regarding autistic older adults and the domains of healthy aging, utilizing the framework conceived by Arksey and O’Malley (2005). RESEARCH DESIGN AND METHODS: To identify the research question, we took the following steps: identify the relevant studies; select studies; chart the data; and collate, summarize, and report the results. The specific domains of healthy aging considered include physical health, mobility, mental health, cognition and memory, and social connectedness. RESULTS: A total of 35 articles were selected for final review. Fifty-seven percent of these studies considered only one domain of healthy aging, 23% studied two domains, while 14% measured three domains and 6% assessed four domains. No study considered all five domains. Of the five domains considered for this scoping review, mental health and cognition and memory were the most represented domains in the studies. DISCUSSION AND IMPLICATIONS: Overall, healthy aging among autistic older adults is largely understudied. More research is needed to better identify and tailor interventions and services for autistic older adults and their families to support healthy aging.
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4. Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto MC, Sandoni L, Baravelli I, Cameli C, Rochat MJ, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody MC, Maestrini E, Bacchelli E. Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates. NPJ Genom Med. 2024; 9(1): 21.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families. We identified 37 rare potentially damaging de novo SNVs (pdSNVs) in the cases (n = 144). Interestingly, two of them (one stop-gain and one missense variant) occurred in the same gene, BRSK2. Moreover, the identification of 8 severe de novo pdSNVs in genes not previously implicated in ASD (AGPAT3, IRX5, MGAT5B, RAB8B, RAP1A, RASAL2, SLC9A1, YME1L1) highlighted promising candidates. Potentially damaging CNVs (pdCNVs) provided support to the involvement of inherited variants in PHF3, NEGR1, TIAM1 and HOMER1 in neurodevelopmental disorders (NDD), although mostly acting as susceptibility factors with incomplete penetrance. Interpretation of identified pdSNVs/pdCNVs according to the ACMG guidelines led to a molecular diagnosis in 19/144 cases, although this figure represents a lower limit and is expected to increase thanks to further clarification of the role of likely pathogenic variants in ASD/NDD candidate genes not yet established. In conclusion, our study highlights promising ASD candidate genes and contributes to characterize the allelic diversity, mode of inheritance and phenotypic impact of de novo and inherited risk variants in ASD/NDD genes.
