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 13 Description of feasibility linked to phenotypical information: part A

From: Outcome measures in Angelman syndrome

Genotype	Age	Sex	Eye-tracking tasks		fNIRS	Indirect calorimetry	BIA	BOD POD	Clinical Global Impression of Severity^f
			VOF	Social pref					Total	Behavior	Motor	Communication	Sleep
			VOF	Social pref					Total	Behavior	Fine/gross	Exp./Recept	Sleep
Deletion	2	Boy	No	Yes, Q+	Yes, Q-	Yes, Q-	No	Yes, Q-	5	4	4/3	5/4	5
Deletion	2	Girl	Yes, Q-	Yes, Q-	Yes, Q-	Yes, Q+	No	Yes, Q-	4	4	4/5	6/5	4
Deletion	6	Boy	Yes, Q+	No	No	Refused^c	Refused^c	Yes, Q-	5	5	5/4	5/5	6
Deletion	6	Girl	Yes, Q+	Yes, Q+	No	Yes, Q-	No	Yes, Q-	5	3	6/6	6/5	4
Deletion	8	Boy	Yes, Q+	No	No attempt^b	No	No	Yes, Q+	5	5	5/4	6/4	2
Deletion	8	Girl	Yes, Q+	No	No attempt^b	No	No	Yes, Q-	6	3	6/5	7/6	2
Deletion	9	Boy	No	No	No attempt^b	No	No	Yes, Q+	4	3	5/3	5/3	2
Deletion	9	Boy	Yes, Q-	No	No	Yes, Q+	Yes, Q-	Yes, Q-	5	3	5/5	6/4	3
Deletion	12	Boy	Yes, Q+	Yes, Q+	No	No	No	Yes, Q+	6	5	5/6	6/4	1
Deletion	12	Boy	Yes, Q-	Yes, Q+	No attempt^b	Yes, Q-	Yes, Q-	Yes, Q+	6	3	5/6	7/6	2
Deletion	12	Boy	Yes, Q+	No	No	Refused^d	Refused^d	Refused^d	4	6	4/3	5/2	3
Deletion	12	Girl	No	Yes, Q+	No	Refused^d	Refused^d	Refused^d	6	3	5/6	6/5	3
Deletion	13	Girl	Yes, Q+	No	No	Yes, Q-	No	Yes, Q+	5	5	5/6	4/2	3
Deletion	14	Boy	Yes, Q-	Yes, Q-	Yes, Q+	Yes, Q-	Yes, Q+	No attempt^e	5	3	5/6	5/3	1
Deletion	18	Girl	Yes, Q+	No	Yes, Q-	Yes, Q+	Yes, Q+	Yes, Q+	5	3	5/5	3/2	5
UPD	7	Girl	Yes, Q-	No	Yes, Q-	No	No	No	3	3	4/3	3/2	5
UPD	8	Girl	Yes, Q-	No	No	Refused^d	Refused^d	Refused^d	4	5	4/4	5/3	3
UPD	12	Girl	Yes, Q-	Yes, Q?^a	Yes, Q?^a	No	No	Yes, Q+	4	5	4/3	4/3	4
UPD	13	Girl	Yes, Q+	No	Yes, Q?^a	Yes, Q+	Yes, Q-	No attempt^e	5	4	5/5	5/4	1
UPD	14	Boy	Yes, Q+	Yes, Q+	No	No	Refused^c	No	4	4	4/3	4/2	5
UPD	15	Boy	Yes, Q+	No	No attempt^b	No	Yes, Q-	Yes, Q+	4	4	5/4	4/3	5
UPD	17	Boy	Yes, Q +	No	No attempt^b	No	No	Yes, Q+	4	5	5/6	4/3	2
ICD	7	Girl	Yes, Q+	Yes, Q?^a	Yes, Q?^a	No	No	Yes, Q+	5	6	4/3	4/3	6
Mutation	5	Girl	Yes, Q-	No	No attempt^b	Yes, Q+	Yes, Q+	Yes, Q-	4	3	4/2	4/3	5
Mutation	7	Boy	Yes, Q+	Yes, Q+	No attempt^b	Yes, Q+	Yes, Q-	Yes, Q+	4	4	4/3	5/3	3
Mutation	9	Girl	Yes, Q+	No	Yes, Q-	Yes, Q+	Yes, Q-	Yes, Q+	4	4	5/4	4/3	1
Mutation	15	Boy	Yes, Q+	Yes, Q+	Yes, Q-	Yes, Q+	Yes, Q+	Yes, Q+	5	4	4/2	5/3	6
Mutation	18	Girl	Yes, Q+	Yes, Q+	Yes, Q-	Yes, Q+	Yes, Q+	Yes, Q+	5	3	5/5	5/3	5

Abbreviations: BIA Bio-impedance analysis, BOD POD whole body air-displacement plethysmography, Exp. Expressive communication, fNIRS Functional Near Infrared Spectroscopy, ICD Imprinting center defect, Recept. Receptive communication, 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 20th 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
^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)

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ISSN: 1866-1955

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