Table 1 Frequency and prevalence of intellectual disability by category of disorder and autism spectrum disorder among individuals born with craniofacial anomalies.

From: Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study

Craniofacial anomalies and subtypes (n)	Intellectual disability	Intellectual disability, by severity			Intellectual disability, by cause			Autism spectrum disorder^a
	Intellectual disability	Mild or moderate	Severe	Unknown	Biomedical ID	Unknown mild–moderate	Unknown severe	Autism spectrum disorder^a
	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)
Craniofacial anomalies (1421)	134 (9.4)^b	114 (8.0)	17 (1.2)	≤5	57 (4.0)	65 (4.6)	≤5	11 (0.8)^c
Non-syndromic (878)	23 (2.6)	23 (2.6)	0	0	≤5	20 (2.3)	0	≤5
Syndromic (543)	111 (20.4)	91 (16.8)	17 (3.1)	≤5	53 (9.9)	45 (8.4)	≤5 (0.9)	8 (1.5)
Other congenital anomalies (28,362)	2381 (8.4)	1952 (6.9)	361 (1.3)	68 (0.2)	1195 (4.2)	919 (3.2)	111 (0.4)	210 (0.7)
Comparison cohort (564,804)^d	9664 (1.7)	8424 (1.5)	732 (0.1)	508 (0.1)	1556 (0.3)	6317 (1.1)	339 (0.001)	2122 (0.4)
Contributing diagnosis
Orofacial clefts (1034)	89 (8.6)	76 (7.4)	10 (1.0)	≤5	33 (3.2)	47 (4.6)	≤5	6 (0.6)
Non-syndromic (673)	18 (2.7)	18 (2.7)	0	0	≤5	17 (2.5)	0	0 (0)
Syndromic (361)	71 (19.8)	58 (16.3)	10 (2.8)	≤5	32 (9.0)	30 (8.4)	≤5	6 (1.7)
Craniosynostosis (303)	34 (11.2)	28 (9.3)	≤5	≤5	17 (5.6)	13 (4.3)	≤5	≤5
Non-syndromic (202)	≤5	≤5	0	0	≤5	≤5	0	≤5
Sagittal synostosis (95)	≤5	≤5	0	0	≤5	≤5	0	0
Coronal synostosis (33)	≤5	≤5	0	0	0	≤5	0	≤5
Metopic synostosis (28)	0	0	0	0	0	0	0	≤5
Lambdoid synostosis (36)	0	0	0	0	0	0	0	≤5
Multiple suture synostosis (7)	0	0	0	0	0	0	0	0
Syndromic (101)	29 (28.7)	23 (23.0)	≤5	≤5	16 (16.0)	10 (10.0)	≤5	≤5
Craniofacial microsomia (78)	10 (12.8)	8 (10.5)	≤5	0	≤5	≤5	≤5	0
Contributing syndromes
Crouzon syndrome (16)	≤5	≤5	0	0	≤5	≤5	0	0
Apert syndrome (≤5)	≤5	≤5	0	0	0	≤5	0	0
Pfieffer syndrome (≤5)	≤5	≤5	0	0	0	≤5	0	0
Muenke syndrome (≤5)	0	0	0	0	0	0	0	0
Baller Gerold syndrome (≤5)	≤5	≤5	0	0	≤5	0	0	0
Saethre–Chotzen syndrome (6)	≤5	≤5	0	0	≤5	0	0	0
Goldenhar syndrome (63)	9 (14.3)	7 (11.1)	≤5	0	≤5	≤5	≤5	0
Treacher Collins syndrome (≤5)	0	0	0	0	0	0	0	0
Pierre Robin sequence (106)	16 (15.1)	14 (13.2)	≤5	0	8 (8.0)	8 (8.0)	0	0
Van der Woude syndrome (13)	≤5	≤5	0	0	≤5	0	0	0

n number of individuals.
^aIncludes individuals with and without intellectual disability.
^bPrevalence of intellectual disability among individuals with craniofacial anomalies (CFA): 94.3 per 1000 live CFA births.
^cPrevalence of autism spectrum disorder among individuals with craniofacial anomalies (CFA): 7.74 per 1000 live CFA births.
^dIncludes individuals without craniofacial anomalies.

Back to article page

Table 1 Frequency and prevalence of intellectual disability by category of disorder and autism spectrum disorder among individuals born with craniofacial anomalies.

Search

Quick links