Schmidt, Heinrich; Giese, Renate; Enders, Angelika; Kern, W.; Hallschmid, M.
Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial.
In: Journal of Medical Genetics, Vol. 46: pp. 217-222
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
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
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.