Outcome measures in Angelman syndrome

Hagenaar, Doesjka A.; Bindels-de Heus, Karen G. C. B.; van Gils, Maud M.; van den Berg, Louise; ten Hoopen, Leontine W.; Affourtit, Philine; Pel, Johan J. M.; Joosten, Koen F. M.; Hillegers, Manon H. J.; Moll, Henriëtte A.; de Wit, Marie-Claire Y.; Dieleman, Gwen C.; Mous, Sabine E.

doi:10.1186/s11689-024-09516-1

Journal of Neurodevelopmental Disorders

Table 14 Description of feasibility linked to phenotypical information: part B

From: Outcome measures in Angelman syndrome

Genotype	Age	Sex	Eye-tracking tasks		fNIRS	Indirect calorimetry	BIA	BOD POD	PEDI-CAT scaled score (T-score)^f
Genotype	Age	Sex	VOF	Social pref	fNIRS	Indirect calorimetry	BIA	BOD POD	Daily activities	Mobility	Social/cognitive
Deletion	2	Boy	No	Yes, Q+	Yes, Q-	Yes, Q-	No	Yes, Q-	42 (35)	55 (41)	47 (29)
Deletion	2	Girl	Yes, Q-	Yes, Q-	Yes, Q-	Yes, Q+	No	Yes, Q-	43 (29)	56 (34)	51 (29)
Deletion	6	Boy	Yes, Q+	No	No	Refused^c	Refused^c	Yes, Q-	47 (15)	60 (23)	52 (< 10)
Deletion	6	Girl	Yes, Q+	Yes, Q+	No	Yes, Q-	No	Yes, Q-	42 (< 10)	52 (< 10)	49 (< 10)
Deletion	8	Boy	Yes, Q+	No	No attempt^b	No	No	Yes, Q+	-	-	-
Deletion	8	Girl	Yes, Q+	No	No attempt^b	No	No	Yes, Q-	-	-	-
Deletion	9	Boy	No	No	No attempt^b	No	No	Yes, Q+	-	-	-
Deletion	9	Boy	Yes, Q-	No	No	Yes, Q+	Yes, Q-	Yes, Q-	-	-	-
Deletion	12	Boy	Yes, Q+	Yes, Q+	No	No	No	Yes, Q+	-	-	-
Deletion	12	Boy	Yes, Q-	Yes, Q+	No attempt^b	Yes, Q-	Yes, Q-	Yes, Q+	-	-	-
Deletion	12	Boy	Yes, Q+	No	No	Refused^d	Refused^d	Refused^d	50 (< 10)	62 (< 10)	54 (< 10)
Deletion	12	Girl	No	Yes, Q+	No	Refused^d	Refused^d	Refused^d	-	-	-
Deletion	13	Girl	Yes, Q+	No	No	Yes, Q-	No	Yes, Q+	46 (< 10)	52 (< 10)	49 (< 10)
Deletion	14	Boy	Yes, Q-	Yes, Q-	Yes, Q+	Yes, Q-	Yes, Q+	No attempt^e	39 (< 10)	44 (< 10)	50 (< 10)
Deletion	18	Girl	Yes, Q+	No	Yes, Q-	Yes, Q+	Yes, Q+	Yes, Q+	49 (< 10)	56 (< 10)	60 (< 10)
UPD	7	Girl	Yes, Q-	No	Yes, Q-	No	No	No	50 (22)	60 (19)	57 (12)
UPD	8	Girl	Yes, Q-	No	No	Refused^d	Refused^d	Refused^d	50 (14)	59 (< 10)	54 (< 10)
UPD	12	Girl	Yes, Q-	Yes, Q?^a	Yes, Q?^a	No	No	Yes, Q+	51 (< 10)	63 (< 10)	56 (< 10)
UPD	13	Girl	Yes, Q+	No	Yes, Q?^a	Yes, Q+	Yes, Q-	No attempt^e	44 (< 10)	52 (< 10)	51 (< 10)
UPD	14	Boy	Yes, Q+	Yes, Q+	No	No	Refused^c	No	51 (< 10)	65 (< 10)	58 (< 10)
UPD	15	Boy	Yes, Q+	No	No attempt^b	No	Yes, Q-	Yes, Q+	48 (< 10)	59 (< 10)	51 (< 10)
UPD	17	Boy	Yes, Q+	No	No attempt^b	No	No	Yes, Q+	-	-	-
ICD	7	Girl	Yes, Q+	Yes, Q?^a	Yes, Q?^a	No	No	Yes, Q+	51 (24)	62 (26)	56 (< 10)
Mutation	5	Girl	Yes, Q-	No	No attempt^b	Yes, Q+	Yes, Q+	Yes, Q-	49 (24)	64 (38)	53 (< 10)
Mutation	7	Boy	Yes, Q+	Yes, Q+	No attempt^b	Yes, Q+	Yes, Q-	Yes, Q+	45 (< 10)	61 (20)	51 (< 10)
Mutation	9	Girl	Yes, Q+	No	Yes, Q-	Yes, Q+	Yes, Q-	Yes, Q+	51 (13)	62 (< 10)	63 (22)
Mutation	15	Boy	Yes, Q+	Yes, Q+	Yes, Q-	Yes, Q+	Yes, Q+	Yes, Q+	56 (< 10)	63 (< 10)	62 (< 10)
Mutation	18	Girl	Yes, Q+	Yes, Q+	Yes, Q-	Yes, Q+	Yes, Q+	Yes, Q+	51 (< 10)	61 (< 10)	60 (< 10)

Abbreviations: BIA Bio-impedance analysis, BOD POD Whole body air-displacement plethysmography, fNIRS Functional Near Infrared Spectroscopy, ICD Imprinting center defect, PEDI-CAT Pediatric Evaluation of Disability Inventory Computer Adaptive Test, Social pref. Social preference task, UPD Uniparental paternal disomy, VOF Cerebral visual impairment task, Q+ Acceptable data quality, Q- Non-acceptable data quality
^aQuality not assessable due to technical problems
^bfNIRS measurement halted after 20^th participant due to ethical reasons
^cChild or legal representative refused to participate in this specific measurement beforehand
^dChild of legal representative refused to participate in second study visit
^eMeasurement could not be started due to technical problems
^fScaled 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

Back to article page

ISSN: 1866-1955

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com