Do children with a Noonan syndrome-like RASopathy and avoidant/restrictive food intake disorder benefit from behavioral therapy?

Unlabelled: Children with Noonan syndrome-like RASopathies are at increased risk for developing feeding problems due to comorbid organic impairments at an early age, such as gastrointestinal problems or other organicity. Their feeding problems can ultimately often be classified as avoidant/restrictive food intake disorder, for which behavioral therapy is the first-choice treatment. The research question in this study is whether this treatment leads to similar results as in children without these RASopathies.

Health problems in children with profound intellectual and multiple disabilities: a scoping review.

Unlabelled: This study aims to investigate and categorize health problems in children with profound intellectual and multiple disabilities (PIMD). We conducted a scoping review in five electronic databases (PubMed, Embase, Medline, PsychInfo, and Web of Science), including peer-reviewed studies that describe health problems in children with PIMD. Articles on PIMD were included when mentioning children with severe or profound intellectual disability (IQ/DQ < 35 or developmental age < 24 months) AND severe/profound motor impairment (GMFCS IV/V, non-ambulatory/not walking without support or gross motor function measure (GMFM-66) score < 40).

Exploring the Value of an Assessment for the Professional Coaching of Residents.

Research on how tools can support coaching of residents is lacking. We hypothesized that an electronic assessment (EA) tool presently applied in selection for residency training, which measures cognitive capacities, personality, motivational drivers, and competencies, could be a valuable tool to support coaching of residents. This study explored the value and limitations, as perceived by residents and coaches, of using the EA to facilitate a single coaching session.

Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome.

We describe a premature hydropic infant with Noonan syndrome and a therapy refractory chylothorax. This was shown to be due to a central conducting lymphatic anomaly. After therapy with a MEK-inhibitor the infant recovered clinically and radiologically completely, possibly by restoring lymphatic valve function.

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, development delay, growth retardation and lymphatic disease. It is caused by germline pathogenic variants in genes encoding proteins in the Ras/mitogen-activated protein kinase signaling pathway. Nerve enlargement is not generally considered as a feature of NS, although some cases have been reported.