The key endpoint for this prospective cohort study is: Mapping of the disease course of all known patients (both children and adults, international) with a CAMK2 mutation, for which ENCORE has founded an expert clinic, and therefore has a substantial and active neuroscientific research arm combined with tertiary academic clinical care delivery for those living in the Netherlands. Such robust clinical maps can subsequently be used for genotype-phenotype correlations and, identify clinically relevant outcome measures for prognostication, improvement of care delivery \& future clinical trials. Additionally, it will most likely generate new research questions for basic scientists who are trying to unravel the specific mechanisms of disease pathophysiology.
Study Type
OBSERVATIONAL
Enrollment
150
This is an observational study without interventions.
Erasmus MC
Rotterdam, South Holland, Netherlands
RECRUITINGAge of milestone achievement
The TAND (Tuberous Sclerosis Associated Neuropsychiatric Disorders) Checklist collects information on the age at which developmental milestones were achieved, enabling the creation of CAMK2-specific developmental curves.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years.
Presence of seizures
Presence of seizures is evaluated through our General questionnaire, which inquires about the presence of comorbidities, and through the online medical interview.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Adaptive Behavior Assessment System 3 (ABAS-3) score
The General Adaptive Composite (GAC) score of the ABAS-3 provides an overall estimate of adaptive functioning. Additionally, scores on the different subdomains of the ABAS-3 can be compared with developmental age. The questionnaire consists of 10 subdomains, each with a minimum score of 0 and a maximum score ranging from 66 to 78. Higher scores indicate higher developmental levels.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Social Responsiveness Scale, Second Edition (SRS-2) total score
The SRS-2 measures the severity of social impairment associated with autism spectrum disorder, as individuals with CAMK2-related disorder often exhibit autism spectrum traits. The score from this questionnaire ranges from 0 - 195. For school-aged individuals, scores of 57 and lower are considered to be within normal limits, for pre-school-aged individuals scores of 66 and lower are considered to be within normal limits. Higher scores indicate higher deficiencies in reciprocal social behavior.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Aberrant Behavior Checklist (ABC) score
The Aberrant Behavior Checklist measures problem behaviors in individuals with intellectual and developmental disabilities. Scores range from 0 - 174, with higher scores indicating more overall behavioral challenges.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Repetitive Behaviors Questionnaire (RBQ) score
The RBQ measures restricted and repetitive behaviors. Scores range from 0 - 76, with higher scores indicating higher frequency of restricted and repetitive behavior.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Child Behavior Checklist (CBCL) score
The CBCL measures emotional and behavioral problems. The questionnaire assesses internalizing problems, externalizing problems, and other problems. For children aged 1.5-5 years, scores for internalizing problems range from 0-72, scores for externalizing problems range from 0-48, and scores for other problems range from 0-14. For the 6-18-year-old group, scores for internalizing problems range from 0-64, for externalizing problems from 0-70, and for other problems from 0-72. Higher scores indicate greater problems in these domains.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Children's Behavior Questionnaire (CBQ) score
The Children's Behavior Questionnaire (CBQ) measures temperament in early childhood. Subdomains consist of presence of self-injury, severity of self-injury, physical aggression, destruction of property and stereotyped behaviors. Scores range from 0 - 18, with higher scores indicating higher severity of problems.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Mood, Interests and Pleasure Questionnaire Long form (MIPQ-L) score
The Mood, Interests and Pleasure Questionnaire monitors emotional well-being and quality of life through subscale scores of mood, interest and pleasure. Scores range from 0-100, with higher scores indicating more positive mood, interest, and pleasure
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
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Short Sensory Profile (SSP) score
The Short Sensory Profile questionnaire measures sensory processing patterns. Scores range from 0 - 185, with lower scores indicate more frequent sensory processing difficulties.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Sleep questionnaire for children with neurological andother complex illnesses (SNAKE) score
The SNAKE questionnaire for children with severe psychomotor impairments measures sleep problems in children with severe neurological or psychomotor disabilities. Scores range from 23 - 92, with higher scores indicating more frequent and/or more severe sleep disturbances.
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Presence of loss of skills
The LOST-skill questionnaire inquiries about skills in all areas of development and functioning, and stability of body functions, in order to identify patterns of skill loss. Scoring is not used in this questionnaire, as the questionnaire aims to identify patterns.
Time frame: Assessment with this questionnaire begins at ages 15-17 and is repeated every five years thereafter.