Table 7. [DYNC1H1-Related Disorders: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Musculoskeletal	Assessment by a neuromuscular specialist, OT/PT assessment of mobility, self-help skills	Every 6-12 mos throughout infancy & childhood, then annually
Neurology	Monitor those w/seizures as clinically indicated. Assess for new manifestations such as seizures, changes in tone, & movement disorders.
Development	Monitor developmental progress & educational needs.
Neurobehavioral/psychiatric manifestations	Assessment for anxiety, ADHD, ASD, aggression, & self-injury	Annually
Feeding	Measurement of growth parameters Eval of nutritional status & safety of oral intake	Every 6-12 mos throughout infancy & childhood, then annually
Gastrointestinal	Monitor for constipation.	Annually
Ophthalmologic involvement	Ophthalmologic screening	As directed by treating ophthalmologist(s)/clinician(s)
Low vision services
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At least 2x annually in 1st 2 yrs of life, then annually; more visits if needed
Transition to adult care	Develop realistic plans for adult life (see American Epilepsy Society Transitions from Pediatric Epilepsy to Adult Epilepsy Care).	Starting by age ~10 yrs

System/Concern

Evaluation

Frequency

Musculoskeletal

Assessment by a neuromuscular specialist, OT/PT assessment of mobility, self-help skills

Every 6-12 mos throughout infancy & childhood, then annually

Neurology

Monitor those w/seizures as clinically indicated.
Assess for new manifestations such as seizures, changes in tone, & movement disorders.

Development

Monitor developmental progress & educational needs.

Neurobehavioral/psychiatric manifestations

Assessment for anxiety, ADHD, ASD, aggression, & self-injury

Annually

Feeding

Measurement of growth parameters
Eval of nutritional status & safety of oral intake

Every 6-12 mos throughout infancy & childhood, then annually

Gastrointestinal

Monitor for constipation.

Annually

Ophthalmologic involvement

Ophthalmologic screening

As directed by treating ophthalmologist(s)/clinician(s)

Low vision services

Family/Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

At least 2x annually in 1st 2 yrs of life, then annually; more visits if needed

Transition to adult care

Develop realistic plans for adult life (see American Epilepsy Society Transitions from Pediatric Epilepsy to Adult Epilepsy Care).

Starting by age ~10 yrs

From: DYNC1H1-Related Disorders

GeneReviews^® [Internet].

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

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