Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with HIST1H1E Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl: Motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education
Behavior	Neuropsychiatric eval	For persons age >12 mos: evaluate for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD.
Neurologic	Neurologic eval	EEG if seizures are a concern Consider brain MRI if there are focal neurologic findings.
Genitourinary	Examine males for cryptorchidism.	If present, referral to pediatric urologist.
Cardiovascular	Echocardiogram	To evaluate for structural cardiac anomalies
Endocrine	TSH & T4	To evaluate for hypothyroidism
Skeletal abnormalities	Assessment of head shape & for sutural ridging in infants	If abnormal, consider head CT w/3D reconstruction to assess for craniosynostosis.
Physical exam to assess for evidence of scoliosis	Consider spine radiographs if scoliosis is evident on physical exam.
Inquire about history of fractures.	Consider referral to orthopedic specialist to evaluate bone mineral density in those w/frequent or unexplained fracture(s).
Abnormal dentition	Dental eval to assess for caries, evidence of thin enamel, hypodontia	Panorex may be considered if hypodontia is suspected
Eyes	Ophthalmology eval	To assess for strabismus, refractive error
Genetic counseling	By genetics professionals ¹	To inform persons & their families re nature, MOI, & implications of HIST1H1E syndrome to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support.

System/Concern

Evaluation

Comment

Development

Developmental assessment

To incl:

Motor, adaptive, cognitive, & speech-language eval
Eval for early intervention / special education

Behavior

Neuropsychiatric eval

For persons age >12 mos: evaluate for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD.

Neurologic

Neurologic eval

EEG if seizures are a concern
Consider brain MRI if there are focal neurologic findings.

Genitourinary

Examine males for cryptorchidism.

If present, referral to pediatric urologist.

Cardiovascular

Echocardiogram

To evaluate for structural cardiac anomalies

Endocrine

TSH & T4

To evaluate for hypothyroidism

Skeletal
abnormalities

Assessment of head shape & for sutural ridging in infants

If abnormal, consider head CT w/3D reconstruction to assess for craniosynostosis.

Physical exam to assess for evidence of scoliosis

Consider spine radiographs if scoliosis is evident on physical exam.

Inquire about history of fractures.

Consider referral to orthopedic specialist to evaluate bone mineral density in those w/frequent or unexplained fracture(s).

Abnormal
dentition

Dental eval to assess for caries, evidence of thin enamel, hypodontia

Panorex may be considered if hypodontia is suspected

Eyes

Ophthalmology eval

To assess for strabismus, refractive error

Genetic
counseling

By genetics professionals ¹

To inform persons & their families re nature, MOI, & implications of HIST1H1E syndrome to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support.

From: HIST1H1E Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.