Schmidt H, Kern W, Giese R, Hallschmid M, Enders A
Dr von Hauner Children's Hospital, University of Munich, Lindwurmstr. 4, 80337 Munich, Germany.
J Med Genet. 2009 Apr;46(4):217-22. doi: 10.1136/jmg.2008.062141. Epub 2008 Oct 23.
The 22q13 deletion syndrome (Phelan-McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease.
To assess if intranasal insulin is also able to improve the developmental delay in children with 22q13 deletion syndrome.
We performed exploratory clinical trials in six children with 22q13 deletion syndrome who received intranasal insulin over a period of 1 year. Short-term (during the first 6 weeks) and long-term effects (after 12 months of treatment) on motor skills, cognitive functions, or autonomous functions, speech and communication, emotional state, social behaviour, behavioural disorders, independence in daily living and education were assessed.
The children showed marked short-term improvements in gross and fine motor activities, cognitive functions and educational level. Positive long-term effects were found for fine and gross motor activities, nonverbal communication, cognitive functions and autonomy. Possible side effects were found in one patient who displayed changes in balance, extreme sensitivity to touch and general loss of interest. One patient complained of intermittent nose bleeding.
We conclude that long-term administration of intranasal insulin may benefit motor development, cognitive functions and spontaneous activity in children with 22q13 deletion syndrome.
22q13缺失综合征（费伦 - 麦克德米德综合征）的特征为全面发育迟缓、言语缺失或延迟、全身肌张力减退、自闭症行为及特征性表型特征。鼻内胰岛素已被证明可改善健康成人及阿尔茨海默病患者的陈述性记忆。
评估鼻内胰岛素是否也能改善22q13缺失综合征患儿的发育迟缓。
我们对6名22q13缺失综合征患儿进行了探索性临床试验，这些患儿接受了为期1年的鼻内胰岛素治疗。评估了对运动技能、认知功能、自主功能、言语和沟通、情绪状态、社会行为、行为障碍、日常生活独立性和教育的短期（前6周）和长期影响（治疗12个月后）。
患儿在粗大和精细运动活动、认知功能和教育水平方面表现出明显的短期改善。在精细和粗大运动活动、非言语沟通、认知功能和自主性方面发现了积极的长期影响。在一名患者中发现了可能的副作用，该患者表现出平衡改变、对触摸极度敏感和普遍兴趣丧失。一名患者抱怨间歇性鼻出血。
我们得出结论，长期给予鼻内胰岛素可能有益于22q13缺失综合征患儿的运动发育、认知功能和自发活动。
