PubMed: 29724491

Title
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Journal
Biological psychiatry
Volume
85
Issue
None
Pages
287-297
Date
2019-02-15
Authors
Gozes I | Van Dijck A | Kooy RF | ADNP Consortium. | Bernier R | Cappuyns E | Eichler EE | Kleefstra T | Kvarnung M | Küry S | Lindstrand A | Mancini GM | Meuwissen ME | Nordgren A | Romano C | Rosenfeld JA | Tzschach A | Vandeweyer G | Vulto-van Silfhout AT | de Vries BBA | van der Werf IM

Evidence 9f9d8356ca

Fifty-two percent of the individuals in this cohort present with severe intellectual disability at the age of assessment, 36% have a moderate disability and 12% have a mild disability.

Evidence ef9f8177c3

Developmental delay is present in all individuals, with motor delay being one of the key features.

Evidence ba63d8163f

Seventy-eight percent of the children had hypotonia, while hypertonia was present in three children.

Evidence 267848e81e

Another key feature is speech delay which presents in 98.6% of individuals.

Evidence dbcf5c2781

Sixteen percent have seizures, including absence seizures, focal seizures with reduced awareness, epilepsy with Continuous Spike and Waves during Slow Wave Sleep (CSWS), or unclassified seizures.

Evidence 25af73da2d

Ninety-three percent of the individuals present with autistic features (Fig. 3-B). Sixty-seven percent of them have been reported to have a clinical diagnosis of ASD.

Evidence 2eb874c36a

Sixty-seven percent have also been diagnosed with sensory processing disorder.

Evidence 4cb83b1d55

Several present with obsessive compulsive behavior, mood disorder, a high anxiety level, temper tantrums, self-injurious and (verbally) aggressive behavior.

Evidence 3aea6e626a

Forty-four percent of the individuals are hyperactive or easily distracted. About one third of them have a diagnosis of Attention Deficit Hyperactivity Disorder (ADHD).

Evidence cf75608857

Sleep problems are present in 65.2%.

Evidence 80f80e4b90

Fifty-six percent of them appeared to have cerebral abnormalities, including atypical white matter lesions, delayed myelination, cortical dysplasia or atrophy, perinatal hypoxic ischemic encephalopathy, hydrocephalus, and hippocampal hypoplasticity (Fig. 3-C)

Evidence 4ea0f62f5e

Visual problems were present in 73.6% of the individuals, especially hypermetropia (40.3%) and strabismus (49.2%), but also myopia and astigmatism (Fig. 3-E).

Evidence 496b7c2b8d

Interestingly, individuals with a p.Tyr719* mutation start walking at 3.5 years, significantly later than the 2 years and 2 months of the remainder of the cohort (p<0.0001, One Way Anova).

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.