Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial

Background: 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. Aims: To assess if intranasal
insulin is also able to improve the developmental delay in children
with 22q13 deletion syndrome. Methods: 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. Results: 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. 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.