Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry.

BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder affecting between 1 in 15 000 and 1 in 24 000 individuals. The condition results in severe developmental and expressive language delays, motor impairments and a unique behavioural phenotype consisting of excessive laughter, smiling and sociability. While many studies have contributed knowledge about the causes and natural history of the syndrome, large scale longitudinal studies are required to advance research and therapeutics for this rare syndrome. METHOD: This article describes the protocol for the Global Angelman Syndrome Registry, and some initial findings. Due to the rarity of AS and the variability in symptom presentation, the registry team will strive for complete case ascertainment. Parents and caregivers will submit data to the registry via a secure internet connection. The registry consists of 10 modules that cover patient demographics; developmental, diagnostic, medical and surgical history, behaviour and development, epilepsy, medications and interventions and sleep. RESULTS: Since its launch at https://angelmanregistry.info in September 2016, almost 470 individuals with AS have been signed up to the registry worldwide: 59% are from North and South America, 23% are from Europe, 17% are from the Asia Pacific region and 1% are from the Middle East or Africa. The majority of registrants are children, with only 16% aged over 20 years. Most participants indicated a chromosome deletion (76%), with fewer participants indicating a mutation, uniparental disomy or imprinting defect (20%). CONCLUSION: Findings indicate a need to consider recruitment strategies that target caregivers of older children and adults, and parents and caregivers from non-English speaking backgrounds.

Three decision-making tasks in cocaine-dependent patients: do they measure the same construct?

AIMS: Substance-abusing populations perform poorly on decision-making tasks related to delay and risk. These tasks include: (1) the Delay Discounting Procedure (DDP), in which choices are made between smaller-sooner and later-larger rewards, (2) the Gambling Task (GT), in which choices are made between alternatives varying in pay-off and punishment, and (3) the Rogers Decision-Making Task (RDMT) in which subjects choose between higher or lower probability gambles. We examine the interrelationship among these tasks. DESIGN: A test battery was created which included the DDP, GT and RDMT, as well as measures of impulsivity, intellectual functioning and drug use. SETTING: Subjects completed the test battery at an outpatient center, prior to beginning 12 weeks of treatment. PARTICIPANTS: Thirty-two treatment-seeking cocaine dependent individuals (primarily African-American males) participated. FINDINGS: Performance on the GT was significantly correlated with performance on the DDP (r = 0.37; p = 0.04). Reaction times on the RDMT correlated with performance on the GT (r = 0.36, p = 0.04) and DDP (r = 0.33, p = 0.07), but actual choices on the RDMT did not (p > 0.9 for both). While no significant relationships were observed between task performance and impulsivity, IQ estimate was positively correlated with both the GT (r = 0.44, p = 0.01) and RDMT (r = 0.41, p = 0.021). Split half reliability data indicated higher reliability when using only data from the latter half of the GT (r = 0.92 vs. r = 0.80). CONCLUSIONS: These data offer preliminary evidence of overlap in the decision-making functioning tapped by these tasks. Possible implications for drug-taking behavior are discussed.

Use of a tissue adhesive to repair fetal bodies after dissection.

The repair of fetal bodies after dissection is extremely difficult because of the delicacy of the skin. A tissue adhesive, Histoacryl blue, was used to repair bodies that had been dissected either before or after immersion in formalin. The repairs were achieved rapidly and neatly. The technique was easy to learn and, providing the method of repair described was followed, there was no breakdown subsequently. The body cavities and reflected skin surfaces were lightly dried with absorbent paper towels and the body loosely packed with cotton wool. "Holding lines" of glue were made and a mid-line strip of glue was applied to the sternum, abdomen, and skull vault, allowing the skin edges to align neatly. Care must be taken to avoid using excess glue as this produces an exothermic reaction. It is recommended that if a fetus has to be repaired after dissection Histoacryl blue will give a good result.

Moving forward on quality of care: role of decision modeling.

Quality care reemerges as an issue amid the primary concern for cost. Primary problems revolve around whether treatments are efficacious and appropriate for the individual patient and whether the practice of medicine is being performed competently. A model is suggested for how these questions might be addressed.

Distal ileostomy drip feedings in neonates with short bowel syndrome.

When a newborn infant presents with high intestinal atresia, the proximal segment of the bowel is usually grossly distended and atonic. The anastomosis of this segment to the smaller and unused distal segment will usually result in little or no propulsion of contents distally. Many techniques have been employed to correct this problem. A common surgical approach is immediate end-to-end anastomosis, followed by parenteral alimentation until return of normal function. This can take many weeks, and requires special attention to fluid loss and complications associated with parenteral alimentation. In this paper we report two infants in whom we utilized a new technique to circumvent these problems. The technique involves continuous drip ileostomy feedings through the distal ileostomy, while basic nutritional needs are being met parenterally. In addition, the secretions from the proximal stoma are collected and infused with the elemental feeding. The distal bowel, now being fully utilized, is stimulated to accommodate, and when the two ends are joined at a second operation, nearly normal anatomical bowel is present.