Table 5. [Au-Kline Syndrome: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Developmental delay / Intellectual disability	See Developmental Delay / Intellectual Disability Management Issues.
Behavior concerns	Formal eval w/psychiatrist &/or behavioral psychologist	May be beneficial for children who exhibit more behavioral struggles
Hypotonia	PT support may be helpful.
Dysautonomia	Referral to neurologist w/experience in mgmt of autonomic dysfunction	Offer strategies for managing heat intolerance & abnormal sweating.
Epilepsy	Standardized treatment w/ASMs by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder. Education of parents/caregivers ¹
Craniosynostosis	Standard treatment per neurosurgeon	Surgical correction may not always be necessary.
Cleft palate	Standard treatment per ENT specialist &/or craniofacial team
Congenital heart defects / Aortic dilatation / Cardiomyopathy	Standard treatment per cardiologist
Hydronephrosis	Referral to pediatric nephrologist & urologist for assessment of renal function & appropriate surgical repair, if needed
Cryptorchidism	Standard treatment per urologist
Poor weight gain / Failure to thrive	Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.
Bowel dysfunction	Stool softeners, prokinetics, osmotic agents, or laxatives as needed for constipation	Consider referral to gastroenterologist.
Scoliosis	If scoliosis is progressive, referral to orthopedist for bracing or surgical intervention w/instrumentation may be required.	It is unclear at present whether certain interventions are more effective or beneficial for progressive scoliosis.
Congenital hip dysplasia / Talipes equinovarus / Contractures / Polydactyly	Standard treatment per orthopedist
Hearing loss	Treatment of SNHL & conductive hearing loss per ENT physician / audiologist; hearing aids if necessary	Community hearing services through early intervention or school district
Refractive errors / Keratopathy	Standard treatment per ophthalmologist
Malocclusion / Open bite / Oligodontia	Standard treatment per dentist &/or orthodontist
Osteopenia	Bisphosphonate treatment could be considered for recurrent fractures.
Hypothyroidism	Standard treatment per endocrinologist
Hypoventilation / Obstructive sleep apnea	Standard treatment per sleep medicine &/or ENT specialist

Manifestation/Concern

Treatment

Considerations/Other

Developmental delay /
Intellectual disability

See Developmental Delay / Intellectual Disability Management Issues.

Behavior concerns

Formal eval w/psychiatrist &/or behavioral psychologist

May be beneficial for children who exhibit more behavioral struggles

Hypotonia

PT support may be helpful.

Dysautonomia

Referral to neurologist w/experience in mgmt of autonomic dysfunction

Offer strategies for managing heat intolerance & abnormal sweating.

Epilepsy

Standardized treatment w/ASMs by experienced neurologist

Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
Education of parents/caregivers ¹

Craniosynostosis

Standard treatment per neurosurgeon

Surgical correction may not always be necessary.

Cleft palate

Standard treatment per ENT specialist &/or craniofacial team

Congenital heart defects / Aortic dilatation / Cardiomyopathy

Standard treatment per cardiologist

Hydronephrosis

Referral to pediatric nephrologist & urologist for assessment of renal function & appropriate surgical repair, if needed

Cryptorchidism

Standard treatment per urologist

Poor weight gain /
Failure to thrive

Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.

Bowel dysfunction

Stool softeners, prokinetics, osmotic agents, or laxatives as needed for constipation

Consider referral to gastroenterologist.

Scoliosis

If scoliosis is progressive, referral to orthopedist for bracing or surgical intervention w/instrumentation may be required.

It is unclear at present whether certain interventions are more effective or beneficial for progressive scoliosis.

Congenital hip dysplasia / Talipes equinovarus / Contractures / Polydactyly

Standard treatment per orthopedist

Hearing loss

Treatment of SNHL & conductive hearing loss per ENT physician / audiologist; hearing aids if necessary

Community hearing services through early intervention or school district

Refractive errors / Keratopathy

Standard treatment per ophthalmologist

Malocclusion / Open bite / Oligodontia

Standard treatment per dentist &/or orthodontist

Osteopenia

Bisphosphonate treatment could be considered for recurrent fractures.

Hypothyroidism

Standard treatment per endocrinologist

Hypoventilation / Obstructive sleep apnea

Standard treatment per sleep medicine &/or ENT specialist

From: Au-Kline Syndrome

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