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Table 1 Neurobehavioral features associated with FOXP1 syndrome

From: FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Clinical features

Pariani et al. [9]

Hamdan et al. [10]

Horn et al. [14]

Carr et al. [15]

Ţuţulan-Cunită et al. [16]

Palumbo et al. [17]

Le Fevre et al. [18]

Lloveras et al. [19]

Dimitrov et al. [20]

Song et al. [21]

Sollis et al., [22]a

Sollis et al. [23]

Siper et al. [24]

Meerschaut et al. [11]

Myers et al. [25]b

Johnson et al. [26]c

Yamamoto et al [27].

Vuillaume et al. [28]

Urreizti et al. [30]

Mutlu-Albayrak et al. [29]

Total (%)

Number of indviduals

1

2

3

1

1

1

1

1

3

1

2

3

9

25

1

1

3

1

1

1

62

Age

1 y 11 m

9 y 11 m, 15 y 11 m

7 y, 5 y 6 m, 6 y

3 y 5 m

5 y

20 y

6 y

2 y 6 m

4 y, 4 m, 1 y

22 y

7 y, 15 y

2 y, 3 y 8 m, 7 y 11 m

5 y - 17 y

5 m - 23 y

4 y 5 m

2 y 11 m

5 y, 8 y, 5 m

31 y

23 y

4 y

mean = 11.4 y; SD = 7.1

Sex

M

1 M, 1F

2 M, 1 F

M

M

M

M

F

1 M, 2 F

F

1 M, 1 F

2 M, 1 F

2 M, 7 F

20 M, 5 F

F

M

2 M, 1 F

F

M

M

41 M:21 F

Deletion (D) or mutation (Mu)

1 D

1 D:1 Mu

3 D

1 D

1 D

1 D

1 D

1 D

3 D

1 Mu

2 Mu

3 Mu

9 Mu

25 Mu

1 Mu

1 Mu

3 D

1 D

1 Mu

1 D

44 Mu:18 D

History of hypotonia

-

-

-

1/1

-

1/1

-

-

-

-

2/2

1/3

8/9

-

1/1

1/1

2/3

1/1

-

-

18/62 (29%)

Motor delays

1/1

2/2

3/3

1/1

1/1

1/1

1/1

1/1

3/3

1/1

2/2

3/3

9/9

22/24

1/1

1/1

3/3

1/1

1/1

1/1

59/61 (97%)

Gait abnormalities

-

-

-

-

-

-

-

-

-

-

-

-

7/9

-

-

1/1

-

-

1/1

-

9/62 (15%)

Speech delays

1/1

2/2

3/3

1/1

1/1

1/1

1/1

1/1

3/3

1/1

2/2

3/3

9/9

23/23

1/1

1/1

2/3

1/1

1/1

1/1

60/60 (100%)

Swallowing or feeding problems

1/1

-

2/3

-

-

-

1/1

-

3/3

-

-

-

3/9

-

1/1

-

2/3

-

-

-

13/62 (21%)

Articulation problems

-

2/2

3/3

1/1

-

-

1/1

-

-

-

2/2

3/3

9/9

9/11

-

-

1/3

-

1/1

-

32/48 (67%)

ID or GDD

1/1

2/2

3/3

1/1

1/1

1/1

1/1

1/1

2/3

1/1

2/2

3/3

8/9

23/24

-

-

2/2

1/1

1/1

1/1

55/61 (90%)

ASD features

-

2/2

-

-

-

1/1

-

-

3/3

-

2/2

-

4/8

14/20

-

-

-

1/1

1/1

-

28/56 (50%)

Behavioral problems

-

2/2

-

-

-

1/1

-

-

-

-

2/2

2/2

9/9

12/19

-

1/1

2/3

-

1/1

-

32/56 (57%)

  1. ASD autism spectrum disorder, D deletion, F female, GDD global developmental delay, ID intellectual disability, M male, m months, Mu mutation, SD standard deviation, y years; “-” indicates absent or not reported
  2. aPatient 3 was reported by Siper et al. [24]
  3. bPatient 1 was reported by Siper et al. [24]
  4. cPatient 1 was reported by Myers et al. [25] and Patient 2 did not have enough data
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Journal of Neurodevelopmental Disorders

ISSN: 1866-1955

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