Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)

Salomon-Estebanez, Maria; Mohamed, Zainab; Michaelidou, Maria; Collins, Hannah; Rigby, Lindsey; Skae, Mars; Padidela, Raja; Rust, Stewart; Dunne, Mark; Cosgrove, Karen; Banerjee, Indraneel; Nicholson, Jacqueline

doi:10.1186/s13023-017-0648-7

Orphanet Journal of Rare Diseases

Table 2 Clinical characteristics associated with severity of CHI

From: Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)

	Late or Early Presenting	Mutation	Transient or Persistent	Responsive to Medication	Surgery	Focal or Diffuse	Total VABS II SDS
# 1	E	Paternal ABCC8	P	Unresponsive	SP	D	-0.9
# 2	L	Negative	P	Diazoxide	No	D	-2.6
# 3	L	Negative	P	Diazoxide	No	D	-1.3
# 4	E	Compound heterozygous ABCC8	P	Unresponsive	SP	D	-0.9
# 5	L	Negative	P	Diazoxide	No	D	-1.1
# 6	L	GCK	P	Diazoxide	No	D	-2.6
# 7	E	Negative	T	Diazoxide	No	D	-1.9
# 8	E	Paternal KCNJ11	T	Diazoxide	No	D	-1.1
# 9	E	Paternal ABCC8	P	Unresponsive	FL	F	-2.3
# 10	E	Negative	P	Diazoxide	No	D	-2.5
# 11	E	Negative	P	Diazoxide	No	D	-1.3
# 12	L	Negative	P	Unresponsive	SP	D	-3.6
# 13	E	Homozygous ABCC8	P	Unresponsive	SP	D	-1.1
# 14	L	Negative	P	Diazoxide	No	D	0.7
# 15	E	Negative	T	Diazoxide	No	D	1.9
# 16	E	Negative	T	Diazoxide	No	D	-0.8
# 17	E	Negative	P	Unresponsive	SP	D	1.1
# 18	E	Maternal KCNJ11	T	Diazoxide	No	D	-0.4
# 19	L	Negative	T	Diazoxide	No	D	0.2
# 20	E	Negative	T	Diazoxide	No	D	-0.5
# 21	E	Maternal ABCC8	T	Diazoxide	No	D	0.1
# 22	E	Paternal ABCC8	T	Diazoxide	No	D	-2.1
# 23	E	Maternal ABCC8	P	Diazoxide	No	D	-1.7
# 24	L	Negative	P	Diazoxide	No	D	-1.4
# 25	E	Negative	T	Glucose	No	D	0.3
# 26	L	Negative	P	Diazoxide	No	D	-0.3
# 27	E	Negative	T	Diazoxide	No	D	-1.5
# 28	E	de novo ABCC8	P	Diazoxide	No	D	2.3
# 29	E	Negative	T	Diazoxide	No	D	-0.8
# 30	L	Negative	P	Diazoxide	No	D	-0.2
# 31	E	Negative	T	Glucose	No	D	-2.1
# 32	L	Negative	T	Diazoxide	No	D	-0.1
# 33	L	Paternal ABCC8	T	Octreotide	No	D	-1.4
# 34	E	Paternal ABCC8	T	Octreotide	No	D	-2.7
# 35	L	Negative	T	Diazoxide	No	D	1.3
# 36	E	Maternal ABCC8	T	Diazoxide	No	D	0.0
# 37	L	Paternal ABCC8	P	Diazoxide	FL	F	0.9
# 38	E	Negative	T	Diazoxide	No	D	0.7
# 39	E	Negative	T	Glucose	No	D	1.4
# 40	E	Negative	T	Diazoxide	No	D	-1.3
# 41	E	Negative	P	Diazoxide	No	D	-1.3
# 42	E	Negative	T	Diazoxide	No	D	-1.4
# 43	E	Negative	T	Diazoxide	No	D	-1.3
# 44	E	Negative	P	Diazoxide	No	D	1.3
# 45	E	Negative	T	Diazoxide	No	D	4.0
# 46	L	Negative	T	Diazoxide	No	D	-1.5
# 47	L	Negative	T	Diazoxide	No	D	1.3
# 48	E	Negative	T	Diazoxide	No	D	0.5
# 49	E	Paternal KCNJ11	T	Octreotide	No	D	-0.3
# 50	E	Negative	T	Diazoxide	No	D	-0.2
# 51	E	Negative	P	Diazoxide	No	D	0.0
# 52	E	Negative	P	Diazoxide	No	D	-0.9
# 53	E	Negative	T	Diazoxide	No	D	0.3
# 54	E	Homozygous ABCC8	P	Unresponsive	SP	D	-2.6
# 55	E	Negative	T	Diazoxide	No	D	0.9
# 56	E	Homozygous ABCC8	P	Octreotide	No	D	-0.4
# 57	E	Negative	T	Diazoxide	No	D	-0.6
# 58	E	Negative	P	Diazoxide	No	D	2.2
# 59	E	Paternal KCNJ11	P	Octreotide	No	D	-1.9
# 60	E	Negative	T	Diazoxide	No	D	-0.4
# 61	E	Compound heterozygous ABCC8	P	Octreotide	No	D	0.9
# 62	E	Negative	T	Diazoxide	No	D	0.5
# 63	E	Negative	T	Diazoxide	No	D	-0.5
# 64	E	Negative	T	Diazoxide	No	D	0.1

Table of clinical descriptors in patients with CHI with time of presentation, genetic status, resolution of hypoglycaemia, response to medication, requirement for pancreatic surgery and Total VABS-II scores
E early, L late, T transient, P permanent, D diffuse, F focal, FL focal lesionectomy, SP subtotal pancreatectomy
All patients on octreotide had previously failed to respond to diazoxide
Outcomes of surgery: Patients with focal CHI were cured after focal lesionectomy. Patient # 1 and # 13 became diabetic post-pancreatectomy; patient # 12 and # 54 are euglycaemic post-pancreatectomy; patients # 4 and #17 have impaired glucose tolerance

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ISSN: 1750-1172

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