Table 6. [ENTPD1-Related Neurodevelopmental Disorder: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Developmental delay / Intellectual disability	Monitor developmental progress & educational needs.	At each visit
Neurologic	Monitor those w/seizures as clinically indicated.
Assess for: New manifestations such as seizures & neurocognitive regression; Changes in existing issues w/tone & neurocognitive regression.
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills	Per treating clinicians
Scoliosis	For those w/scoliosis: per treating orthopedist
For those w/o scoliosis; evaluate yearly
Dysarthria	Per treating speech-language pathologist	Per treating speech-language pathologist
Dysphagia	Swallow study & speech eval	If clinical concerns for new findings
Neurobehavioral/Psychiatric	Per treating mental health professional	Per treating mental health professional
Neurocognitive	Monitor developmental progress & educational needs.	At each visit
Ophthalmologic involvement	Per treating ophthalmologist	Per treating ophthalmologist
Per treating 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 each visit

System/Concern

Evaluation

Frequency

Developmental delay /
Intellectual disability

Monitor developmental progress & educational needs.

At each visit

Neurologic

Monitor those w/seizures as clinically indicated.

Assess for:

New manifestations such as seizures & neurocognitive regression;
Changes in existing issues w/tone & neurocognitive regression.

Musculoskeletal

Physical medicine, OT/PT assessment of mobility, self-help skills

Per treating clinicians

Scoliosis

For those w/scoliosis: per treating orthopedist

For those w/o scoliosis; evaluate yearly

Dysarthria

Per treating speech-language pathologist

Dysphagia

Swallow study & speech eval

If clinical concerns for new findings

Neurobehavioral/Psychiatric

Per treating mental health professional

Neurocognitive

Monitor developmental progress & educational needs.

At each visit

Ophthalmologic involvement

Per treating ophthalmologist

Per treating 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 each visit

From: ENTPD1-Related Neurodevelopmental Disorder

GeneReviews^® [Internet].

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

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