Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with MBD5 Haploinsufficiency]. - GeneReviews®

System/Concern	Evaluation	Comment
Development	Developmental assessment	Eval for early intervention / special education
PT/OT eval	To incl assessment of: Gross motor & fine motor skills Mobility, ADL, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Speech eval	Incl feeding eval & nutrition consultation as needed
Neurologic	Neurologic eval	Consider EEG if seizures are a concern.
Sleep assessment	To incl consideration of sleep onset delay, early waking, & daytime sleepiness, as well as parental sleep
Neurobehavioral/ Psychiatric	Neuropsychiatric eval	Persons age >12 mos: screening for concerns incl assoc sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Gastrointestinal/ Feeding	Gastroenterology / nutrition / feeding team eval	Assess for feeding problems &/or constipation.
Musculoskeletal	Clinical assessment for hip dysplasia, joint laxity, &/or scoliosis
Cardiovascular	Cardiac eval
Audiology	Hearing assessment	As part of routine eval of children w/speech delay
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of MBD5 haploinsufficiency in order 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; Home nursing referral.	Ensure that IEP is in place. Counsel parents re guardianship & adult services.

System/Concern

Evaluation

Comment

Development

Developmental assessment

Eval for early intervention / special education

PT/OT eval

To incl assessment of:

Gross motor & fine motor skills
Mobility, ADL, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Speech eval

Incl feeding eval & nutrition consultation as needed

Neurologic

Neurologic eval

Consider EEG if seizures are a concern.

Sleep assessment

To incl consideration of sleep onset delay, early waking, & daytime sleepiness, as well as parental sleep

Neurobehavioral/
Psychiatric

Neuropsychiatric eval

Persons age >12 mos: screening for concerns incl assoc sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD

Gastrointestinal/
Feeding

Gastroenterology / nutrition / feeding team eval

Assess for feeding problems &/or constipation.

Musculoskeletal

Clinical assessment for hip dysplasia, joint laxity, &/or scoliosis

Cardiovascular

Cardiac eval

Audiology

Hearing assessment

As part of routine eval of children w/speech delay

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of MBD5 haploinsufficiency in order 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;
Home nursing referral.

Ensure that IEP is in place.
Counsel parents re guardianship & adult services.

From: MBD5 Haploinsufficiency

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.