Background/Aims: 22q13 deletion syndrome (Phelan-McDermid syndrome) is characterized by a global developmental delay, the absence or delay of speech, generalized hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and patients with Alzheimer’s disease. We assessed if intranasal insulin is also able to improve the developmental delay in children with 22q13 deletion syndrome.
Methods: We performed exploratory clinical trials in 6 children with 22q13 deletion syndrome who received intranasal insulin over a period of one year. Short-term (during the first 6 weeks) and long-term effects (after 12 month of treatment) on motor skills and cognitive functions as well as autonomous functions, speech and communication, emotional state, social behaviour, behaviour disorders, independence in daily living and education were assessed.
Results: The children showed marked short-term improvements with regard to gross- and fine motor activities, cognitive functions and educational level. Positive long-term effects were observed for fine- and gross motor activities, nonverbal communication, cognitive functions and autonomy. Possible side effects were observed in one patient who displayed changes in balance, extreme sensitivity to touch and general loss of interest. One patient complained of casual nose bleeding.
Conclusions: We conclude that long-term administration of intranasal insulin may benefit motor development, cognitive functions and spontaneous activity in children with 22q13 deletion syndrome.