Smith Magenis syndrome
Conditions
Interventions
Prior to the start of the trial during a clinical visit, the clinician will
determine the dose of methylphenidate that is appropriate for the participant
based on body weight and taking into account
Sponsors
Academisch Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: - A diagnosis of SMs confirmed with standard genetic testing (such as FISH test, microarray, WES-analysis). - Meet DSM-5 criteria for ADHD, and diagnosed with ADHD by a multidisciplinary team consisting of an intellectual disability physician, a psychologist, and a psychiatrist. - Minimum age of six years old. - Presence of a patient*s caregiver for proxy-reports.
Exclusion criteria
Exclusion criteria: - Presence of a contra-indication for treatment with methylphenidate. - Planned general anaesthesia during the trial. - Pregnancy. - Breastfeeding females. - Females of childbearing potential must be willing to use an effective method of contraception from the time consent is signed until 6 weeks after treatment discontinuation and inform the trial if pregnancy occurs. - During treatment with non-selective, irreversible monoamine oxidase (MAO) inhibitors, or within a minimum of 14 days of discontinuing those drugs. - Current substance or alcohol abuse. - Unable to swallow tablets / capsules.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome measure is the ADHD subscale of the Strengths and Difficulties Questionnaire (SDQ). The response options that are about *the recent past* will be substituted by *today*. The SDQ subscale has been psychometrically considered as a valid tool to measure behaviour of people with intellectual disabilities and applicable to both children and adults | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcome measures are the shortened version of the Emotion Dysregulation Inventory (EDI) reactivity index, Goal Attainment Scaling (GAS) and the Personal Questionnaire (PQ) to identify and measure the most obstructing symptoms experienced by participants. The response options that are about *the recent past* will be substituted by *today*. The EDI will be filled out daily at a certain time point by parents, caregivers, or patients themselves if capable. Participants will be contacted daily by the investigator to assess goals from GAS and possible side effects. Participants, parents and/or caregivers will keep a diary for scoring personal items from the PQ and possible side effects. | — |
Countries
Netherlands
Outcome results
None listed