Associations between speech features and phenotypic severity in Treacher Collins syndrome

BMC Medical Genetics

Table 1 Characteristics of the individuals with Treacher Collins syndrome (TCS)

Partici-pants	Type of cleft^a	Atresia of the ear canal^b	Hearing PTA(dB)^c	Nasal obstruction^d	Narrow hypopharynx^e	Malocclusion^f	Orthodontic treatment	Orthognatic surgery^g	TCS severity scores^h	NOT-S total scoresⁱ
Adults
1	0	0	65.00	0	1	1a	1	0	13	4
2	0	0	13.75	0	0	0	0	0	7	3
3	0	0	68.75	0	1	0	1	0	11	4
4	1	1	67.50	1	1	0	1	0	16	6
5	0	1^{^}	56.25	1	1	0	1	1	12	4
6	0	1^{^}	95.00	2	1	3a	0	2	15	7
7	0	0	40.00	0	∆	0	0	0	8	4
8	0	2	47.50	0	1	1a	1	0	12	3
9	0	0	26.25	1	0	0	0	0	9	2
10	1*	0	32.50	0	1	1a	0	0	10	7
11	0	0	61.25	1	1	3b	1	0	11	4
11–18 years
12	0	0	53.75	1	1	0	0	0	7	5
13	0	0	32.50	0	1	1b	0	0	7	4
14	2	1	60.00	2	1	0	0	0	17	5
15	0	0	53.75	0	1	0	0	0	12	4
5–10 years
16	0	1	70.00	2	2	2	0	0	15	7
17	1	1	75.00	0	2	2	0	2	16	7
18	2	1	58.75	1	1	0	0	0	14	4
19	0	0	52.50	0	1	1b	0	0	12	4

Present (1), absent (0), missing data (∆).
^aIsolated cleft palate (1), submucous cleft palate (2), pharyngeal flap (*).
^bNo atresia of the ear canal (0), bilateral atresia (1) and unilateral atresia (2), acquired unilateral facial palsy (^).
^cPure-tone average.
^dNo nasal obstruction (0), nasal septum deviation, (1), choanal atresia or stenosis (2).
^eNarrow hypopharynx (1) including history with tracheostomy (2).
^fNo increased or reverse overjet or open bite (0). Increased overjet > 3.5 to ≤ 6 mm (1a) and > 6 to ≤ 9 mm (1b). Lateral and anterior open bite < 4 mm (2). Reverse overjet > 1 mm to > 3.5 mm (3a) and ≥ 3.5 mm (3b).
^gNo orthognatic surgery (0), LeFort III osteotomy (1), mandibular advancement (2).
^hMild TCS phenotype 0–10, severe TCS phenotype 11–20.
ⁱ Nordic Orofacial Test-Screening (NOT-S) total score (0–12) reflecting number of affected domains.

ISSN: 1471-2350