Table 5. [Recommended Surveillance for Individuals with Serine Deficiency Disorders]. - GeneReviews®

System/Concern	Evaluation	Frequency
Neurologic	Monitor those w/seizures as clinically indicated. Assess for new manifestations such as seizures, changes in tone, & contractures.	At each visit
Development	Monitor developmental progress & educational needs.
Neurobehavioral/ Psychiatric	Behavioral assessment for anxiety, ADHD, ASD, aggression, or self-injury	At each visit in persons of school age
Growth/Feeding	Measurement of growth parameters Eval of nutritional status & safety of oral intake	At each visit
Gastrointestinal	Monitor for constipation & feeding tube issues when present.
Respiratory	Monitor for evidence of aspiration, respiratory insufficiency.
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills
Dental	Dental eval for ↑ risk of caries assoc w/oral L-serine powder	Every 6 mos
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
Assess transitional care needs.	At time of transition from pediatric to adult care

System/Concern

Evaluation

Frequency

Neurologic

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

At each visit

Development

Monitor developmental progress & educational needs.

Neurobehavioral/
Psychiatric

Behavioral assessment for anxiety, ADHD, ASD, aggression, or self-injury

At each visit in persons of school age

Growth/Feeding

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

At each visit

Gastrointestinal

Monitor for constipation & feeding tube issues when present.

Respiratory

Monitor for evidence of aspiration, respiratory insufficiency.

Musculoskeletal

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

Dental

Dental eval for ↑ risk of caries assoc w/oral L-serine powder

Every 6 mos

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

Assess transitional care needs.

At time of transition from pediatric to adult care

From: Serine Deficiency Disorders

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

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