Dumont Eric, Tiemens Dagmar K, Draaisma Jos M T, Kleimeier Lotte E R, van Druten Debbie, Mulkens Sandra
Dept. of Research and Development, SeysCentra, Malden, The Netherlands.
Dept. of Clinical Psychological Science, Faculty of Psychology and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Eur J Pediatr. 2024 Dec 23;184(1):100. doi: 10.1007/s00431-024-05933-5.
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. We retrospectively investigated patients with a genetically confirmed Noonan syndrome-like RASopathy who were treated for their disordered eating in a tertiary center for avoidant/restrictive food intake disorder on characteristics and treatment outcomes and compared them to a matched case-control group of children with avoidant/restrictive food intake disorder without Noonan syndrome-like RASopathy in a ratio of 1:2. Both groups improved substantially on food intake measures and feeding skills/dysfunction between the start of therapy and immediately after the therapy and showed an increase in SDS weight/height and a decrease in tube dependency. We found no significant treatment outcomes between children with and without Noonan Syndrome-like RASopathy, nor for comorbid features.
Patients with Noonan syndrome-like RASopathy and avoidant/restrictive food intake disorder benefit equally well from cognitive behavioral therapy, as patients without a Noonan syndrome-like RASopathy.
• More than 50% of the infants with Noonan syndrome-like RASopathy have serious feeding/eating problems. • Most of them temporarily need tube feeding.
• Ultimately, these feeding/eating problems may develop into an avoidant/restrictive food intake disorder. • Behavioral therapy (SLIK program) can effectively manage complex feeding/eating problems such as avoidant/restrictive food intake disorder in patients with a Noonan syndrome-like RASopathy. • There were no significant differences found in the history of comorbid features, feeding skill (dys)function, avoidant/restrictive food intake disorder characteristics, or treatment outcomes.
患有努南综合征样RAS病的儿童由于早年合并器质性损害（如胃肠道问题或其他器质性病变），出现喂养问题的风险增加。他们的喂养问题最终通常可归类为回避/限制性食物摄入障碍，行为疗法是首选治疗方法。本研究的研究问题是，这种治疗方法是否能产生与没有这些RAS病的儿童相似的效果。我们回顾性调查了在三级中心接受回避/限制性食物摄入障碍治疗的、经基因确诊患有努南综合征样RAS病的患者的疾病特征和治疗结果，并将他们与一组匹配的、没有努南综合征样RAS病的回避/限制性食物摄入障碍儿童病例对照组进行比较，比例为1:2。两组在治疗开始至治疗刚结束期间，食物摄入量测量指标和喂养技能/功能障碍方面均有显著改善，身高体重标准差增加，对管饲的依赖减少。我们发现，患有和未患有努南综合征样RAS病的儿童在治疗结果上没有显著差异，合并特征方面也没有差异。
患有努南综合征样RAS病和回避/限制性食物摄入障碍的患者与没有努南综合征样RAS病的患者一样，从认知行为疗法中获益良好。
• 超过50%患有努南综合征样RAS病的婴儿存在严重的喂养/进食问题。• 他们中的大多数人暂时需要管饲。
• 最终，这些喂养/进食问题可能发展为回避/限制性食物摄入障碍。• 行为疗法（SLIK项目）可以有效管理患有努南综合征样RAS病患者的复杂喂养/进食问题，如回避/限制性食物摄入障碍。• 在合并特征病史、喂养技能（功能）障碍、回避/限制性食物摄入障碍特征或治疗结果方面未发现显著差异。
