Outcome measures in Angelman syndrome

Table 1 Demographical and phenotypical characteristics of the study sample (n = 28)

	Frequency
Sex
Male	14
Female	14
Genotype
Deletion	15
Non-deletion	13
Paternal uniparental disomy (UPD)	7
Imprinting center defect (ICD)	1
UBE3A mutation	5
Epilepsy
Yes	22
Yes, active	16
Yes, controlled with anti-seizure medication	6
No	6
No, never	4
In remission (currently no anti-seizure medication)	2
Socio-economic status^a
Low-level education^b	1
Middle-level education^c	16
High-level education^d	11
Comorbid psychiatric diagnoses
No psychiatric diagnosis	21
Attention deficit hyperactivity disorder (ADHD)	6
Autism spectrum disorder (ASD)	1
Medication use
Antiseizure medication
Valproic acid	13
Clobazam	10
Levetiracetam	6
Topiramate	3
Diazepam, lamotrigin, or ethosuximide	2
Ethosuximide, gabapentine, clonazepam, lacosamide, brivaracetam, or rufinamide	1
Psychotropic medication
Methylphenidate	4
Risperidone	2
Aripiprazol	1
No medication	5
Vision (as reported by parents)
Normal vision	9
Farsighted^e	9
Strabismus	8
No stereovision	5
Nearsighted^e	4
Nystagmus	2
Walking abilities
Walking independently	18
Walking with support	7
Wheelchair dependent	3
	Mean (SD)
Age	11.04 (4.51)
CGI-S score^f
Total	4.68 (0.78)
Behavior	4.00 (0.98)
Motor (fine/gross)	4.68 (0.61)/4.29 (1.33)
Communication (expressive/receptive)	4.93 (1.05)/3.50 (1.17)
Sleep	3.46 (1.64)
PEDI-CAT scaled scores (N = 20)^g
Daily activities	47.58 (4.17)
Mobility	58.26 (5.28)
Social/cognitive	53.89 (4.62)

Abbreviations: CGI-S Clinical Global Impression of Severity Scale; PEDI-CAT Pediatric Evaluation of Disability Inventory Computer Adaptive Test
^aDefined as highest education (average) of both parents
^bLow-level education consisted of: no education or primary education only
^cMiddle-level education consisted of: secondary education only or middle-level vocational education
^dHigh-level education consisted of: high level vocational education, university education, or PhD education
^eOnly one participant tolerated wearing glasses, while 12 others were supposed to wear glassed but did not tolerate them
^fThe CGI was adapted to the AS population by the authors. A score of 1 represents normal development, 2 is slightly impaired, 3 is mildly impaired, 4 represents moderately impaired, 5 is markedly impaired, 6 is severely impaired, and 7 represents very severe impairments (among the most extremely impaired)
^gScaled scores on the PEDI-CAT lay on a continuum of 20 (low function) to 80 (high function) and are not age-related. T-scores were not reported, as more than half of the population had a T-score lower than 10, under which no differentiation was possible

ISSN: 1866-1955