Table 4. [IDEDNIK Syndrome: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
General	Consultation w/metabolic physician / biochemical geneticist
GI / Feeding / Nutrition	Consultation w/ gastroenterologist & dietitian Assessment for aspiration risk	May require dietary modifications, supplementation, tube feeding, or parenteral nutrition
Integument	Dermatology consultation
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education
Musculoskeletal	Orthopedics / physical medicine & rehab / 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)
Hearing	Audiologic eval for sensorineural hearing loss
Neurologic	Neurologic eval	To incl brain MRI Consider EEG if seizures are a concern. Assess for peripheral neuropathy esp in older persons.
Neurobehavioral/ Psychiatric	Neuropsychiatric eval	For persons age >12 mos: screening for behavior concerns incl ASD
Liver manifestations	Assessment of liver function: ALT, AST, bilirubin, ALP, prothrombin time, INR, albumin, total protein, GGT, & serum ammonia	Note: Liver biopsy is not routinely recommended but may be indicated under certain clinical conditions.
Recurrent infections	Assess for recurrent mastoiditis, sinusitis, & otitis media. ENT consultation as needed Immunology or infectious disease consultation as needed
Hematologic	CBC to assess for anemia, thrombocytopenia, neutropenia, & peripheral eosinophilia Referral to hematology w/bone marrow biopsy if indicated
Ocular manifestations	Ophthalmologic eval	To assess for reduced vision, abnormal ocular movement, best corrected visual acuity, refractive errors, strabismus, & more complex findings (e.g., cataract) that may require referral for subspecialty care &/or low vision services
Genitourinary	Assess for cryptorchidism.
Endocrine	If severe short stature: assess thyroid function (thyroxine, TSH). Assess for growth hormone deficiency.	Note: Severe short stature w/growth hormone deficiency & hypothyroidism was noted in only 1 person [Meriç et al 2021].
Genetic counseling	By genetics professionals ¹	To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of IDEDNIK syndrome to facilitate medical & personal decision making
Family support & resources	By clinicians, wider care team, & family support organizations	Assessment of family & social structure to determine need for: Community or online resources such as Parent to Parent & Human Disease Genes website series (HDG) Social work involvement for parental support Home nursing referral

System/Concern

Evaluation

Comment

General

Consultation w/metabolic physician / biochemical geneticist

GI / Feeding / Nutrition

Consultation w/ gastroenterologist & dietitian
Assessment for aspiration risk

May require dietary modifications, supplementation, tube feeding, or parenteral nutrition

Integument

Dermatology consultation

Development

Developmental assessment

To incl motor, adaptive, cognitive, & speech-language eval
Eval for early intervention / special education

Musculoskeletal

Orthopedics / physical medicine & rehab / 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)

Hearing

Audiologic eval for sensorineural hearing loss

Neurologic

Neurologic eval

To incl brain MRI
Consider EEG if seizures are a concern.
Assess for peripheral neuropathy esp in older persons.

Neurobehavioral/
Psychiatric

Neuropsychiatric eval

For persons age >12 mos: screening for behavior concerns incl ASD

Liver manifestations

Assessment of liver function: ALT, AST, bilirubin, ALP, prothrombin time, INR, albumin, total protein, GGT, & serum ammonia

Note: Liver biopsy is not routinely recommended but may be indicated under certain clinical conditions.

Recurrent infections

Assess for recurrent mastoiditis, sinusitis, & otitis media.
ENT consultation as needed
Immunology or infectious disease consultation as needed

Hematologic

CBC to assess for anemia, thrombocytopenia, neutropenia, & peripheral eosinophilia
Referral to hematology w/bone marrow biopsy if indicated

Ocular manifestations

Ophthalmologic eval

To assess for reduced vision, abnormal ocular movement, best corrected visual acuity, refractive errors, strabismus, & more complex findings (e.g., cataract) that may require referral for subspecialty care &/or low vision services

Genitourinary

Assess for cryptorchidism.

Endocrine

If severe short stature: assess thyroid function (thyroxine, TSH).
Assess for growth hormone deficiency.

Note: Severe short stature w/growth hormone deficiency & hypothyroidism was noted in only 1 person [Meriç et al 2021].

Genetic counseling

By genetics professionals ¹

To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of IDEDNIK syndrome to facilitate medical & personal decision making

Family support
& resources

By clinicians, wider care team, & family support organizations

Assessment of family & social structure to determine need for:

Community or online resources such as Parent to Parent & Human Disease Genes website series (HDG)
Social work involvement for parental support
Home nursing referral

From: IDEDNIK Syndrome

GeneReviews^® [Internet].

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

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