Table 3.

Serine Deficiency Disorders: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Neurologic
  • Neurologic eval
  • EEG
  • To incl brain MRI
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurobehavioral/
Psychiatric 		Neuropsychiatric evalFor persons age >12 yrs: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures & kyphoscoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Eyes Ophthalmologic evalTo assess for nystagmus & cataracts
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of serine deficiency disorders to facilitate medical & personal decision making
Family support
& resources 		Assess need for: In those w/juvenile-onset serine deficiency to assess impact on family from behavioral issues

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Serine Deficiency Disorders

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