Table 2.

Clinical Findings in Females with DDX3X-Related Neurodevelopmental Disorder

FindingReport 1 [Snijders Blok et al 2015]Report 2 [Wang et al 2018]Report 3 [Lennox et al 2020]
DD/ID38/38 (100%)28/28 (100%)84/84 (100%)
Behavior issues20/38 (53%)6/28 (21%)See footnote 1.
Hypotonia29/38 (76%)19/28 (68%)66/83 (80%)
Hypertonia alone or a mixture of hyper- & hypotoniaSee footnote 2.2/12 (17%)38/83 (46%)
Epilepsy/seizures6/38 (16%)NA17/83 (20%)
Movement disorders17/38 (45%) 217/28 (61%)18/83 (22%)
Microcephaly12/38 (32%)7/28 (25%)25/74 (34%)
Vision issues13/38 (34%)9/28 (32%)32/82 (39%)
RespiratoryNA5/28 (18%)NA
Congenital heart abnormalitiesNA5/7 3 (71%)11/82 (13%)
Skeletal (scoliosis)4/38 (11%)NA8/82 (10%)
Hearing impairment3/38 (8%)NA4/78 (5%)
Precocious puberty5/38 (13%)NA7/82 (9%)
Cleft lip/palate/uvula3/38 (8%)NANA

NA = not applicable

Note: Some overlap of participants exists in the three reported cohorts; to address the overlap, cohort 1 has been reported in its entirety and the overlaps subtracted from cohorts 2 and 3. One male overlaps in Reports 1 and 2, but (being male) is not counted in the table. Twenty of the 104 females in Report 3 were previously reported.

DD = developmental delay; ID = intellectual disability; NA = not applicable (not specified or reported in the study)

1.

In Lennox et al [2020], 49 children were assessed using the Child Behavior Checklist (CBCL) self-reported by parents. The mean CBCL was 58.3, with a SD of 10 – significantly different from neurotypical controls, p<0.001.

2.

In Snijders Blok et al [2015], movement disorders include spasticity.

3.

Evaluated by echocardiogram

From: DDX3X-Related Neurodevelopmental Disorder

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