Table 4. [Treatment of Manifestations in Individuals with 7q11.23 Duplication Syndrome]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
DD	Early intervention programs, special education programs, vocational training Speech-language therapy, PT, OT	Hippotherapy should be considered, esp for children who have difficulty w/balance & children who have ASD.
Childhood apraxia of speech or other significant speech delay/disorder	Intensive speech-language therapy (preferably by a speech-language pathologist who has specific training in treating motor speech disorders)	To maximize effective oral communication & prevent or limit later language impairment &/or reading disorder
Anxiety / Selective mutism	Cognitive-behavioral intervention for anxiety (preferably by licensed clinical psychologist) Psychotropic medication if indicated	For children who have selective mutism, co-treatment by speech-language therapist & psychologist should be strongly considered.
ASD	Applied behavior analysis (preferably conducted by a board-certified behavior analyst) or other empirically supported intervention for ASD
ADHD	Behavioral modifications in home & school settings Psychotropic medication if indicated
Aggression	Applied behavior analysis intervention Psychotropic medication if indicated	Physical aggression should be assessed & treated immediately to prevent development of a long-standing pattern of aggression.
Oppositionality	Behavioral interventions w/emphasis on reinforcing positive behaviors Psychotropic medication if indicated	Maintain awareness of potential role of anxiety & speech &/or language difficulties.
Seizures	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder. Education of parents/caregivers ¹
Hydrocephalus	Ventriculo-peritoneal shunting as needed
Congenital heart disease	Treatment per cardiologist
Aortic dilatation	Beta-blocker therapy in some affected persons per cardiologist	Some w/severe aortic dilatation have required surgery. ²
Poor weight gain / Failure to thrive	Feeding therapy Gastrostomy tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Constipation	Stool softeners, prokinetics, osmotic agents, or laxatives as needed	Aggressive mgmt at all ages to prevent encopresis & impaction
Growth hormone deficiency	Human growth hormone replacement therapy
Genitourinary malformations	Treatment per nephrologist &/or urologist
Abnormal vision &/or strabismus	Standard treatment(s) per ophthalmologist	Community vision services through early intervention or school district
Hearing / Recurrent otitis	Standard treatment of otitis Hearing aids may be helpful per ENT.	Community hearing services through early intervention or school district
Clubfeet	Casting & treatment per orthopedist
Family/Community	Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.	Ongoing assessment of need for palliative care involvement &/or home nursing Consider involvement in adaptive sports or Special Olympics.

Manifestation/Concern

Treatment

Considerations/Other

Early intervention programs, special education programs, vocational training
Speech-language therapy, PT, OT

Hippotherapy should be considered, esp for children who have difficulty w/balance & children who have ASD.

Childhood apraxia of speech or other significant speech delay/disorder

Intensive speech-language therapy (preferably by a speech-language pathologist who has specific training in treating motor speech disorders)

To maximize effective oral communication & prevent or limit later language impairment &/or reading disorder

Anxiety /
Selective mutism

Cognitive-behavioral intervention for anxiety (preferably by licensed clinical psychologist)
Psychotropic medication if indicated

For children who have selective mutism, co-treatment by speech-language therapist & psychologist should be strongly considered.

ASD

Applied behavior analysis (preferably conducted by a board-certified behavior analyst) or other empirically supported intervention for ASD

ADHD

Behavioral modifications in home & school settings
Psychotropic medication if indicated

Aggression

Applied behavior analysis intervention
Psychotropic medication if indicated

Physical aggression should be assessed & treated immediately to prevent development of a long-standing pattern of aggression.

Oppositionality

Behavioral interventions w/emphasis on reinforcing positive behaviors
Psychotropic medication if indicated

Maintain awareness of potential role of anxiety & speech &/or language difficulties.

Seizures

Standardized treatment w/ASM by experienced neurologist

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

Hydrocephalus

Ventriculo-peritoneal shunting as needed

Congenital heart disease

Treatment per cardiologist

Aortic dilatation

Beta-blocker therapy in some affected persons per cardiologist

Some w/severe aortic dilatation have required surgery. ²

Poor weight gain /
Failure to thrive

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

Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia

Constipation

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

Aggressive mgmt at all ages to prevent encopresis & impaction

Growth hormone deficiency

Human growth hormone replacement therapy

Genitourinary malformations

Treatment per nephrologist &/or urologist

Abnormal vision &/or strabismus

Standard treatment(s) per ophthalmologist

Community vision services through early intervention or school district

Hearing /
Recurrent otitis

Standard treatment of otitis
Hearing aids may be helpful per ENT.

Community hearing services through early intervention or school district

Clubfeet

Casting & treatment per orthopedist

Family/Community

Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Ongoing assessment of need for palliative care involvement &/or home nursing
Consider involvement in adaptive sports or Special Olympics.

From: 7q11.23 Duplication Syndrome

GeneReviews^® [Internet].

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

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