Sexual and reproductive health education for patients with myelomeningocele.

AIM: To evaluate the sexual and reproductive health education received by patients with myelomeningocele, the most severe form of spina bifida. METHOD: A survey designed to assess the sexual and reproductive health education given by a healthcare provider to patients with myelomeningocele was offered to all English-speaking patients aged 12 years or older with a myelomeningocele clinic visit. RESULTS: In total, 67 surveys were completed. Menstruation and menstrual management were discussed at a rate of 85% in females. Few patients had discussions with a provider about fertility (42%), sexuality (37%), risk of sexually transmitted infections (45%), or had a relationship with a reproductive healthcare provider (54%). Differences by sex were observed for contraceptive education. The rate of discussions increased with age. A total of 67% of female patients and 33% of male patients requested a referral to a reproductive healthcare provider. INTERPRETATION: Sexual and reproductive health education is part of comprehensive care for all patients and those with disabilities should not be excluded. The lack of consistent education received by patients supports the need for increased attention to this topic. We encourage multidisciplinary myelomeningocele clinics to establish a process for delivering complete and patient-specific sexual and reproductive health education.

Feeding difficulty and gastrostomy tube placement in infants with Down syndrome.

The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndrome, to establish the prevalence of gastrostomy tube placement (G-tube), and to determine if any clinical signs, symptoms, or comorbidities correlated with a higher risk for needing placement of a G-tube. An electronic medical record retrospective chart review of 73 children with Down syndrome born between January 2013 and March 2017 and seen in Nationwide Children's Hospital's multidisciplinary Down Syndrome Clinic included demographic information, medical history, and results of studies and specialist evaluations. Descriptive statistics were utilized to summarize the data. Comparisons were performed to identify factors which differed between feeding difficulty vs. no feeding difficulty and G-tube placement vs. no G-tube placement. "Feeding difficulty" was the only feeding term established by the AAP guidelines which was consistently noted in charts of children with feeding abnormalities. Infants with feeding difficulty had increased use of medical services and more abnormalities on specialist evaluations and studies. Congenital heart disease, cardiothoracic surgery, obstructive sleep apnea, and hypothyroidism did not differ significantly between the groups assessed. Our cohort had a prevalence of 13.7% for requiring G-tube placement in their first year of life.Conclusion: The currently established clinical tools for determining which patients may benefit from radiographic evaluation lack sufficient sensitivity to detect all individuals with feeding difficulty. Due to the high prevalence of abnormal VSS results and high rate of G-tube placement, universal radiographic screening for individuals with Down syndrome could be considered, even in the absence of obvious clinical signs or symptoms. However, determining how to balance this with cost, availability, and radiation exposure may be difficult.What is Known: • Feeding difficulty in children with Down syndrome can lead to significantly increased morbidity, such as poor weight gain, failure to thrive, aspiration, persistent respiratory symptoms, andrecurrent pneumonia. • The AAP has established a clinical tool regarding which objective signs and symptoms should lead to a radiographic swallowing assessment within their Health Supervision for Children with Down Syndrome Clinical Report.What is New: • A comprehensive assessment of clinical signs, symptoms, and common comorbidities in infants with Down syndrome has not previously been correlated with presence of feeding difficulty nor necessity for gastrostomy tube placement, including whether or not the terms used in the AAP guidelines encompass the sensitivity required to detect all infants with feeding difficulty. • The prevalence of gastrostomy tube placement in children with Down syndrome has not previously been established.

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.

PURPOSE: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS: Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected. Elements of the proposed definition of unexplained regression in DS were analyzed by paired comparisons between regression cases and matched controls. RESULTS: We identified 35 patients with DS and unexplained regression, with a mean age at regression of 17.5 years. Diagnostic features differed substantially between regression cases and matched controls (p < 0.001 for all but externalizing behaviors). Patients with regression had four times as many mental health concerns (p < 0.001), six times as many stressors (p < 0.001), and seven times as many depressive symptoms (p < 0.001). Tiered medical evaluation most often identified abnormalities in vitamin D 25-OH levels, polysomnograms, thyroid peroxidase antibodies, and celiac screens. Analysis of the subset of patients with nondiagnostic medical evaluations reinforced the proposed definition. CONCLUSIONS: Our case-control evidence supports a proposed definition of unexplained regression in Down syndrome. Establishing this clinical definition supports future research and investigation of an underlying mechanism.