We tested the hypothesis that increasing methyl-group pools might promote transcriptional repression by other methyl-binding proteins or by Mutant methyl-CpG-binding protein 2 with altered affinity, ameliorating the clinical features of Rett syndrome. A 12-month, double-blind, placebo-controlled folate-betaine trial enrolled 73 methyl-CpG-binding protein 2 mutation positive female participants meeting consensus criteria for Rett syndrome. Participants were randomized as young (< age 5 years) or old (>= age 5 years). Structured clinical assessments occurred at baseline, 3, 6, and 12 months. Primary Outcome measures included quantitative evaluation of breathing and hand movements during wakefulness, growth, anthropometry, motor/behavioral function, and qualitative evaluations from electroencephalograms and parent questionnaires. In all, 68 participants completed the study. Objective evidence of improvement was not found. Subjective improvement from parent questionnaires was noted for the < 5 years group. This study should inform future treatment trials regarding balancing participants with specific mutations and comparable severity to minimize selection bias.

The objective was to assess the effects of long-term psychostimulant medication on growth parameters in children with attention deficit hyperactivity disorder (ADHD). Eighty-nine children diagnosed with ADHD treated by prescribed psychostimulant medications were followed with repeated growth measures over a 3 years duration. Anthropometric measurements were recorded at baseline, 3, 6, 12, 24, and 36 months. Medical records were reviewed for demographic information, medication side effects and appetite suppression. Body mass index (BMI) and z-scores were determined at each follow up visit. Descriptive and analytical analyses by repeated measures analysis of varianc were performed. Significant weight loss was documented mostly during the first few months of treatment with stimulants. Although z-scores for weight showed significant changes over the 2 years of treatment, further analysis of the changes did not reach clinical significance. BMI growth was within normal limits throughout the duration of treatment. Baseline weight predicted weight loss for heavier children only. Pre-pubertal children were more subject to weight loss than children during puberty, as well as children for which appetite suppression was reported. No long-term impact on height was noted. Different stimulant medication did not differ in their effects on growth. Generally, parents and providers can be reassured that growth changes with long-term stimulant therapy are not clinically significant for a diverse group of children with ADHD.

The interdisciplinary evaluation has been a well-established process in centers for neurodevelopmental disabilities, but it is costly and may generate long waiting lists that can delay early diagnosis and treatment. An alternative evaluation paradigm was designed, using a specific screening approach, to improve use of staff time without compromising quality of care. An alternative model (AM) was designed, where a pre-designed selection process was used to sort new patients for either a comprehensive evaluation or a screening procedure, addressing medical, developmental and social issues with the additional use of developmental screening tools. A routine clinic (RC) comprehensive evaluation of each referral, was compared to the AM for waiting time, charges for patients, reimbursement to the center, and parents' and professional trainees' satisfaction. Results showed that waiting time for the screening procedure (10.3 weeks) was significantly reduced (RC 20.6 weeks). Charges for the screening procedure were significantly lower, but center revenues were not affected. Caregivers' satisfaction was maintained and trainees' satisfaction was high. The AM identified medical concerns sooner and encouraged collaboration with community resources. This study supports the use of an Alternative Developmental Evaluation paradigm for more effective use of interdisciplinary teams in centers for neurodevelopmental disabilities.

Attention Deficit Hyperactivity Disorder (ADHD) is quite prevalent, affecting 3–7% of school-age children in the United States. Parents and providers often report reduced appetite and concerns about growth in treated children. Eighty-nine children treated for ADHD by psychostimulant medication were tracked up to 36 months. Reported appetite suppression was found for 66% of the children and those with appetite suppression had significant weight changes compared with those without reported appetite suppression. Significant weight, height, and body mass index changes were found compared with baseline regardless of type of medication, gender, race, and economic status. However, the degree of weight loss was not clinically significant for the group as a whole. Strategies to intervene with appetite suppression included adjusting meals and snacks to off-peak medication times and behavioral management at meal times, including school lunch. The addition of nutrition services as a part of treatment for ADHD is recommended for nutritionists and child nutrition program supervisors.

The interdisciplinary evaluation (IE) model has been well established in Centers for Neurodevelopmental Disabilities. This model may be less competitive in a health care environment dominated by patient volume, economics, and outcomes. IE generates long waiting lists resulting in delayed diagnosis and access to care. An alternative evaluation model addressed staff cut-backs, cost accountability, timing and delivery of appropriate services without compromising quality of care. Patients (N=88) in the alternative model(AM) were compared to those (N=94) in the routine clinic (RC). IE averaged 6 hrs per patient with medical, psychological, speech, social, vision and hearing evaluations at a minimum for RC. In AM a decision protocol was used to select appropriate patients for a 90 minute medical and social assessment including standardized developmental screening tools. Of new patients, 49(56%) received AM. Trained social workers used the decision protocol after medical records were procured and considered age, reason for visit, previous testing, and driving distance. AM patients were 3 and 10 years old, 76.9% were males, 88.5% received Medicaid, and 84.6% were referred in by physicians or health clinics. Compared to RC, the time on the waiting list was shortened by 2 months (10.2 vs 18.5 wks) for AM families. The charge per AM patient decreased by 30% ($548 vs $779), with similar level of reimbursement over the 5 mo. AM patients had fewer clinical contacts (6.9 vs 8.1). Surveyed by mail, AM caregiver satisfaction was high (80%), with 72% reporting their questions or concerns were addressed. All surveyed student clinicians (N=8) agreed AM provided a good IE learning opportunity. Outcomes from AM were medical referrals (15.4% for genetics, 15.4% for further laboratory studies, 11.5% for MRI studies, 26.9% for ADHD testing, 15.4% for hearing reassessment, 15.4% for optometry, and 11.5% for physical therapy), IQ testing (42.3%), speech/language therapy (26.9%) and other interventions (family counseling 11.5% preschool 23%). Over half (52%) of families reported recommended services were easily obtained. AM used an IE team effectively to screen for neurodevelopmental disabilities, shorten staff time, costs and waiting lists. Medical concerns were identified sooner by AM and its decision protocol used more community resources than RC.