Table 5. [Recommended Surveillance for Individuals with 3q29 Recurrent Deletion]. - GeneReviews®

System/Concern	Evaluation	Frequency
Development	Monitor developmental progress & educational needs.	At each visit throughout early childhood
Psychiatric/ Behavioral	Behavioral assessment for anxiety, attentional difficulties, & emerging symptoms of schizophrenia prodrome or psychosis	Annual evals; more often if symptoms begin to emerge or medication is necessary
Neurologic	Monitor those w/seizures as clinically indicated. Assess for new seizures.	At each visit
Scoliosis	Clinical exam for scoliosis	Annually throughout childhood
Feeding	Measurement of growth parameters Eval of nutritional status & safety of oral intake	At each visit
Gastrointestinal	Monitor for gastroesophageal reflux, constipation, & chronic diarrhea
Vision / Ocular issues	Ophthalmology exam & vision screening for refractive errors & strabismus	As recommended by ophthalmologist
Dental anomalies	Eval w/pediatric dentist throughout childhood for abnormal enamel, tooth shape & number	Every 6 mos or more frequently as recommended by pediatric dentist
Ears, nose, throat	Assess for recurrent otitis & epistasis.	At each visit
Enuresis	Assess for enuresis.
Pulmonary & sleep	Assess for sleep issues.
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

System/Concern

Evaluation

Frequency

Development

Monitor developmental progress & educational needs.

At each visit throughout early childhood

Psychiatric/
Behavioral

Behavioral assessment for anxiety, attentional difficulties, & emerging symptoms of schizophrenia prodrome or psychosis

Annual evals; more often if symptoms begin to emerge or medication is necessary

Neurologic

Monitor those w/seizures as clinically indicated.
Assess for new seizures.

At each visit

Scoliosis

Clinical exam for scoliosis

Annually throughout childhood

Feeding

Measurement of growth parameters
Eval of nutritional status & safety of oral intake

At each visit

Gastrointestinal

Monitor for gastroesophageal reflux, constipation, & chronic diarrhea

Vision /
Ocular issues

Ophthalmology exam & vision screening for refractive errors & strabismus

As recommended by ophthalmologist

Dental anomalies

Eval w/pediatric dentist throughout childhood for abnormal enamel, tooth shape & number

Every 6 mos or more frequently as recommended by pediatric dentist

Ears, nose, throat

Assess for recurrent otitis & epistasis.

At each visit

Enuresis

Assess for enuresis.

Pulmonary & sleep

Assess for sleep issues.

Family/Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

From: 3q29 Recurrent Deletion

GeneReviews^® [Internet].

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

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