Table 4.

Treatment of Manifestations in Individuals with 3q29 Recurrent Deletion

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID
  • Early speech & language therapy to address speech delays
  • PT/OT as necessary to address fine & gross motor delays
  • IEP for school-age children
Neuropsychiatric
disorders
  • Care by a child psychiatrist for anxiety disorder &/or other neuropsychiatric manifestations w/transfer of care to adult psychiatrist when appropriate
  • Cognitive behavioral therapy for social disability &/or anxiety
  • Adaptive behavior (e.g., social skills training)
  • Applied behavioral analysis or other treatment for manifestations of ASD
  • Medication as necessary for anxiety disorder, ADHD, or psychosis
Because of the risk of psychosis assoc w/3q29 deletion, cautious use of stimulant treatment for ADHD, w/explicit monitoring for emerging psychosis, is recommended. Medications less likely to drive frank psychotic symptoms (e.g., bupropion, atomoxetine) could be considered as alternatives to amphetamines or methylphenidate.
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
Musculoskeletal
issues 		Treatment per orthopedist
Poor weight
gain / FTT 		Feeding therapy (incl nutrition assessment) w/pediatric feeding specialist or behavioral pediatric psychologistConsider gastrostomy tube for severe feeding problems & continued FTT.
GER Age-specific treatment for reflux per gastroenterologist incl testing for food allergies
Bowel
dysfunction
  • Behavioral &/or medical treatment of constipation (stool softeners, prokinetics, osmotic agents, or laxatives) if persistent
  • Consider referral to gastroenterologist.
Strabismus Treatment per ophthalmologistMay require patching or surgery
Dental
anomalies/
caries 		May require:
  • More frequent dental exams & cleanings
  • Assistance w/daily brushing & flossing
Cardiac
anomalies 		Management per cardiologist &/or cardiothoracic surgeon
Ear infections Standard medical &/or surgical management as recommended by otolaryngologist
Epistaxis Standard treatment as recommended by otolaryngologist
Enuresis
  • Consider eval for enuresis if persistent.
  • Consider behavioral interventions incl alarm techniques if indicated.
  • Assess for medications that could contribute to enuresis.
Sleep
issues
  • Recommendations for implementing healthy sleep hygiene habits
  • Referral to pulmonologist/sleep clinic as needed
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.
Consider involvement in adaptive sports or Special Olympics.

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability; FTT = failure to thrive; GER = gastroesophageal reflux; IEP = individualized education program; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: 3q29 Recurrent Deletion

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