Table 4. [NKX2-1-Related Disorders: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	Evaluate for chorea (especially benign hereditary chorea), as well as other neurologic manifestations (e.g., tone abnormalities, other abnormal movements). Brain MRI eval
Pulmonary	Pulmonary eval	Evaluate & treat pulmonary dysfunction Pulmonary function tests Initial screening for pulmonary malignancy w/chest x-ray or CT scan of chest during early adolescence (age 13 yrs)
Thyroid	Thyroid function tests (TSH, T₄, T₃) for eval of hypothyroidism Initial eval for thyroid malignancy by physical exam incl thyroid palpation. Thyroid ultrasound & imaging is only indicated if an abnormality is found on palpation of thyroid gland.	Initial screening for thyroid cancer in childhood (age 5 yrs)
Developmental	Eval by neurodevelopmental pediatrician &/or physical therapist	In early childhood (age 12 mos) Evaluate for gross motor issues & gait abnormalities, which can occur in early course of disease.
Neuropsychiatric	Neuropsychiatric eval	Evaluate for ADHD & other psychiatric manifestations
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of NKX2-1-related disorders to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Neurologic

Neurologic eval

Evaluate for chorea (especially benign hereditary chorea), as well as other neurologic manifestations (e.g., tone abnormalities, other abnormal movements).
Brain MRI eval

Pulmonary

Pulmonary eval

Evaluate & treat pulmonary dysfunction
Pulmonary function tests
Initial screening for pulmonary malignancy w/chest x-ray or CT scan of chest during early adolescence (age 13 yrs)

Thyroid

Thyroid function tests (TSH, T₄, T₃) for eval of hypothyroidism
Initial eval for thyroid malignancy by physical exam incl thyroid palpation. Thyroid ultrasound & imaging is only indicated if an abnormality is found on palpation of thyroid gland.

Initial screening for thyroid cancer in childhood (age 5 yrs)

Developmental

Eval by neurodevelopmental pediatrician &/or physical therapist

In early childhood (age 12 mos)
Evaluate for gross motor issues & gait abnormalities, which can occur in early course of disease.

Neuropsychiatric

Neuropsychiatric eval

Evaluate for ADHD & other psychiatric manifestations

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of NKX2-1-related disorders to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: NKX2-1-Related Disorders

GeneReviews^® [Internet].

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

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