Browsing by Author "Rikard, Blaire"

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    Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.
    (Orphanet journal of rare diseases, 2020-09-03) Pratt, Milton; Uchitel, Julie; McGreal, Nancy; Gordon, Kelly; Prange, Lyndsey; McLean, Melissa; Noel, Richard J; Rikard, Blaire; Rogers Boruta, Mary K; Mikati, Mohamad A

    Background

    Alternating Hemiplegia of Childhood (AHC) is caused by mutations of the ATP1A3 gene which is expressed in brain areas that include structures controling autonomic, gastrointestinal, gut motility and GABAergic functions. We aimed to investigate, in a cohort of 44 consecutive AHC patients, two hypotheses: 1) AHC patients frequently manifest gastrointestinal, particularly motility, problems. 2) These problems are often severe and their severity correlates with neurological impairments.

    Results

    41/44 (93%) exhibited gastrointestinal symptoms requiring medical attention. For these 41 patients, symptoms included constipation (66%), swallowing problems (63%), vomiting (63%), anorexia (46%), diarrhea (44%), nausea (37%), and abdominal pain (22%). Symptoms indicative of dysmotility occurred in 33 (80%). The most common diagnoses were oropharyngeal dysphagia (63%) and gastroesophageal reflux (63%). 16 (39%) required gastrostomy and two fundoplication. Severity of gastrointestinal symptoms correlated with non-paroxysmal neurological disability index, Gross Motor Function Classification System scores, and with the presence/absence of non-gastrointestinal autonomic dysfunction (p = 0.031, 0.043, Spearman correlations and 0.0166 Cramer's V, respectively) but not with the paroxysmal disability index (p = 0.408).

    Conclusions

    Most AHC patients have gastrointestinal problems. These are usually severe, most commonly are indicative of dysmotility, often require surgical therapies, and their severity correlates with that of non-paroxysmal CNS manifestations. Our findings should help in management-anticipatory guidance of AHC patients. Furthermore, they are consistent with current understandings of the pathophysiology of AHC and of gastrointestinal dysmotility, both of which involve autonomic and GABAergic dysfunction.
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    Role of Pediatricians, Pediatric Associations, and Academic Departments in Ensuring Optimal Early Childhood Development Globally: Position Paper of the International Pediatric Association.
    (Journal of developmental and behavioral pediatrics : JDBP, 2022-08-16) Uchitel, Julie; Alden, Errol; Bhutta, Zulfiqar A; Cavallera, Vanessa; Lucas, Jane; Oberklaid, Frank; Patterson, Janna; Raghavan, Chemba; Richter, Linda; Rikard, Blaire; Russell, Robert Ross; Mikati, Mohamad A

    Abstract

    Early childhood (birth-8 years), particularly the first 3 years, is the most critical time in development because of the highly sensitive developing brain. Providing appropriate developmental care (i.e., nurturing care, as defined by the World Health Organization [WHO]) during early childhood is key to ensuring a child's holistic development. Pediatricians are expected to play a critical role in supporting early childhood development (ECD) through providing developmental services such as developmental monitoring, anticipatory guidance, screening, and referral to medical and/or community-based services when delay is identified. Pediatricians are also expected to serve as advocates within their clinics and communities for improved delivery of ECD services, such as advocating for increasing funding for ECD initiatives, increasing insurance coverage of ECD services, and working to increase other pediatricians' awareness of the principles of ECD and how to deliver developmental services. However, this does not always occur. Typically, pediatricians' training and practice emphasizes treating disease rather than enhancing ECD. Pediatricians are further hindered by a lack of uniformity across nations in guidelines for developmental monitoring and screening. In this article, we present the vision of the International Pediatric Association (IPA) of the roles that pediatricians, academic departments, medical training programs, and pediatric associations should fulfill to help support ECD, including raising ECD to higher levels of priority in routine pediatric care. First, we present the challenges that face these goals in supporting ECD. We then propose, with supportive literature, strategies and resources to overcome these challenges in collaboration with local and international stakeholders, including the IPA, the WHO, UNICEF, and the World Bank.