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

Diagnosis	System/Concern	Evaluation	Comment
In infancy	Need for controlled environment	Evaluate for ways to keep infant in quiet & calm environment w/temperature control (20° C).	Careful handling is essential to avoid excessive startling & spasm; infants are typically irritable.
Respiratory status	Oxygen saturation test
Hydration status	Physical exam & electrolyte testing	Infants w/CISS/CS may be dehydrated at presentation/diagnosis.
Safety of oral feeding	Swallowing test Esophageal manometry
Neurologic status	Assessment by neurologist
EEG if seizures observed	Seizures occur in response to hyperthermia, not as a primary disorder.
Reduced corneal sensitivity	Assessment by ophthalmologist for corneal injury
Flexion contractures of fingers & elbows	Assessment by PT or OT
In childhood or adulthood	Neurologic status	Assessment by neurologist
Impaired thermoregulation ¹	Review symptoms w/patient & family.	Normally noted by parents but not a concern until early teens
Scoliosis	Assess spine w/radiographs & exam.
Genetic counseling	By genetics professionals ²	To inform patients & families re nature, MOI, & implications of CISS/CS in order to facilitate medical & personal decision making
Family support & resources	Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.

Diagnosis

System/Concern

Evaluation

Comment

In infancy

Need for controlled
environment

Evaluate for ways to keep infant in quiet & calm environment w/temperature control (20° C).

Careful handling is essential to avoid excessive startling & spasm; infants are typically irritable.

Respiratory status

Oxygen saturation test

Hydration status

Physical exam & electrolyte testing

Infants w/CISS/CS may be dehydrated at presentation/diagnosis.

Safety of oral
feeding

Swallowing test
Esophageal manometry

Neurologic status

Assessment by neurologist

EEG if seizures observed

Seizures occur in response to hyperthermia, not as a primary disorder.

Reduced corneal
sensitivity

Assessment by ophthalmologist for corneal injury

Flexion contractures
of fingers & elbows

Assessment by PT or OT

In childhood
or adulthood

Neurologic status

Assessment by neurologist

Impaired
thermoregulation ¹

Review symptoms w/patient & family.

Normally noted by parents but not a concern until early teens

Scoliosis

Assess spine w/radiographs & exam.

Genetic counseling

By genetics professionals ²

To inform patients & families re nature, MOI, & implications of CISS/CS in order to facilitate medical & personal decision making

Family support
& resources

Assess:

Use of community or online resources such as Parent to Parent;
Need for social work involvement for parental support;
Need for home nursing referral.

From: Cold-Induced Sweating Syndrome Including Crisponi Syndrome

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

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