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

System/Concern	Evaluation	Comment
Constitutional	Measure weight, length/height, & head circumference.	To assess for growth restriction & microcephaly
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education
Neurobehavioral/ Psychiatric	Neuropsychiatric eval	For persons age >12 mos: screening for concerns incl ADHD, anxiety, &/or findings suggestive of ASD
Neurologic	Neurologic eval to incl assessment for seizures & dysautonomia	Brain MRI could be considered if neurologic symptoms (e.g., seizure) are present. Consider EEG if seizures are a concern. Consider referral to neurologist.
Craniofacial	In infants, evaluate for craniosynostosis w/clinical exam & imaging as needed.	Referral to neurosurgeon if craniosynostosis is suspected
ENT eval	To identify palate anomalies & malocclusion
Cardiovascular	Cardiac eval w/echocardiography	To evaluate for structural defects, dilatation of aorta, & cardiomyopathy
Genitourinary	Renal ultrasound	To evaluate for hydronephrosis
Consider voiding cystourethrogram, as clinically indicated	To evaluate for vesicoureteral reflux & obstructive uropathy
Clinical assessment for cryptorchidism in males	Consider referral to urologist.
Gastrointestinal/ Feeding	Clinical eval of feeding	If there are feeding concerns or poor growth, consider GI referral & eval for dysmotility. Consider eval for gastrostomy tube placement in persons w/feeding difficulty & poor growth.
Skeletal	Spine radiographs to assess for segmentation anomalies & scoliosis Hip ultrasound or radiograph depending on age Consider spine MRI to evaluate for spinal syrinx, as clinically indicated.	Referral to orthopedist for congenital hip dysplasia or moderate-to-severe scoliosis
Hearing	Audiologic eval	To identify middle ear effusion & sensorineural hearing loss
Eyes	Ophthalmologic eval	To identify vision concerns & evaluate for keratopathy
Dental	Eval for malocclusion, oligodontia, & bruxism
Endocrine	Consider TSH and free T₄.	To evaluate for hypothyroidism
Bone densitometry	If fractures are reported
Respiratory	Consider polysomnogram	If concerns for sleep apnea
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of AKS to facilitate medical & personal decision making
Family support & resources	Eval of family & social structure to determine availability of adequate support systems	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

Constitutional

Measure weight, length/height, & head circumference.

To assess for growth restriction & microcephaly

Development

Developmental assessment

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

Neurobehavioral/
Psychiatric

Neuropsychiatric eval

For persons age >12 mos: screening for concerns incl ADHD, anxiety, &/or findings suggestive of ASD

Neurologic

Neurologic eval to incl assessment for seizures & dysautonomia

Brain MRI could be considered if neurologic symptoms (e.g., seizure) are present.
Consider EEG if seizures are a concern.
Consider referral to neurologist.

Craniofacial

In infants, evaluate for craniosynostosis w/clinical exam & imaging as needed.

Referral to neurosurgeon if craniosynostosis is suspected

ENT eval

To identify palate anomalies & malocclusion

Cardiovascular

Cardiac eval w/echocardiography

To evaluate for structural defects, dilatation of aorta, & cardiomyopathy

Genitourinary

Renal ultrasound

To evaluate for hydronephrosis

Consider voiding cystourethrogram, as clinically indicated

To evaluate for vesicoureteral reflux & obstructive uropathy

Clinical assessment for cryptorchidism in males

Consider referral to urologist.

Gastrointestinal/
Feeding

Clinical eval of feeding

If there are feeding concerns or poor growth, consider GI referral & eval for dysmotility.
Consider eval for gastrostomy tube placement in persons w/feeding difficulty & poor growth.

Skeletal

Spine radiographs to assess for segmentation anomalies & scoliosis
Hip ultrasound or radiograph depending on age
Consider spine MRI to evaluate for spinal syrinx, as clinically indicated.

Referral to orthopedist for congenital hip dysplasia or moderate-to-severe scoliosis

Hearing

Audiologic eval

To identify middle ear effusion & sensorineural hearing loss

Eyes

Ophthalmologic eval

To identify vision concerns & evaluate for keratopathy

Dental

Eval for malocclusion, oligodontia, & bruxism

Endocrine

Consider TSH and free T₄.

To evaluate for hypothyroidism

Bone densitometry

If fractures are reported

Respiratory

Consider polysomnogram

If concerns for sleep apnea

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of AKS to facilitate medical & personal decision making

Family support
& resources

Eval of family & social structure to determine availability of adequate support systems

Assess need for:

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

From: Au-Kline Syndrome

GeneReviews^® [Internet].

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

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