The effect of intranasal insulin on development and behaviour of children with Phelan-McDermid syndrome

Phase 2

Completed

Conditions: 22q13.3 deletion syndrome
Phelan-McDermid syndrome
10083624

Registration Number: NL-OMON37136

Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 20

Inclusion Criteria

• Age between 12 months and 18 years 0 months old at 1-1-2013
• Proven SHANK3 deletion by array-comparative genomic hybridization (array-CGH)
• Parents need to speak and understand Dutch

Exclusion Criteria

• A contra-indication for the use of intranasal application (e.g. anatomical obstruction)
• Severe perinatal brain damage (e.g. asphyxia, haemorrhage, infection)
• A metabolic or muscle disease responsible for neurological symptoms, independent of the 22q13 deletion

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The primary end point is developmental pace. Development is assessed by the<br /><br>Bayley-III-NL (Dutch version of the Bayley-III, Bayley, 2006) or WPPSI-III-NL<br /><br>(Dutch version of the WPPSI-III, Wechsler, 2009) dependent on the developmental<br /><br>age of the children. Both the Bayley-III and the WPPSI are individually<br /><br>administered tests that provide subtests and composite scores that represent<br /><br>general functioning. Developmental pace is calculated as the difference in<br /><br>developmental age equivalent between two assessments divided by the difference<br /><br>in calendar age in months at the time of these assessments (typically 6<br /><br>months), resulting in a value for developmental age increase / month.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The secondary end point is behaviour. Behaviour is assessed by the following<br /><br>questionnaires: Vineland screener, ESSEON, CBCL1,5-5, and Brief-P. To evaluate<br /><br>behaviour in several domains, raw scores are determined. Improvement of<br /><br>behaviour is represented by the increase in test scores in a certain period<br /><br>(typically 6 months).<br /><br>Other study parameters are genotypic characteristics, phenotypic<br /><br>characteristics and motor behaviour.</p><br>