Table 5.

Treatment of Manifestations in Individuals with HNRNPH2-Related Neurodevelopmental Disorder

Manifestation/
Concern		TreatmentConsiderations/Other
Poor weight
gain / Failure to
thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Psychiatric/
Behavioral 		Standard treatment per psychiatrist &/or neurodevelopmental specialist23% of affected persons have received treatment w/SSRIs, antipsychotics, selective norepinephrine reuptake inhibitors, alpha-2-agonists, opioid antagonists, &/or benzodiazepines.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Affected persons have responded well to levetiracetam & valproic acid.
  • Education of parents/caregivers 1
Movement
disorders 		Physical medicine & rehab / PT & OT
Abnormal tone Standard treatment per physical medicine & rehab / PT & OT / orthopedist
  • Positioning & mobility devices may be considered.
  • Consider medications such as baclofen, Botox® for hypertonia.
Constipation Standard treatmentMay incl stool softeners, prokinetics, osmotic agents, or laxatives as needed
Sleep apnea Standard treatment per pulmonologist, ENT, &/or sleep specialist
Cortical visual
impairment 		Supportive treatment & strategiesEarly intervention program to stimulate visual development & specific CVI strategies
Hearing loss Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Musculoskeletal
anomalies 		Standard treatment per orthopedist
  • Surgical intervention to correct severe scoliosis, hip dysplasia, & extremity abnormalities
  • Supportive braces
Cardiac defects Standard mgmt per cardiologist
Pubertal
abnormalities 		Standard mgmt per endocrinologist
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; CVI = cortical visual impairment; DD/ID = developmental delay / intellectual disability; OT = occupational therapy; PT = physical therapy; SSRIs = selective serotonin reuptake inhibitors

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: HNRNPH2-Related Neurodevelopmental Disorder

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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.