System/Concern | Evaluation | Comment |
|---|
Anthropometrics | Measurement of weight, length/height, head circumference | For those w/obesity, consider referral to nutritionist dietician. |
Neurodevelopmental milestones cognition | Age-appropriate neurodevelopmental cognitive assessments | Neurodevelopmental milestone assessment should incl motor, cognitive, speech-language eval.; Early identification of neurodevelopmental delays would allow for early intervention. |
Neurobehavioral psychiatric abnormalities | Neuropsychiatric evals1 | For persons age ≥12 mos, screen for neurobehaviorial concerns such as aggression, irritability, emotional lability, self-mutilation, motor tics, /or findings suggestive of ASD, based on individual presentation. |
Sleep | Consider consulting sleep specialist for possible sleep study. | — |
Musculoskeletal | Assessment of spine vertebrae via spinal radiographs to detect features incl abnormal spinal curvature (e.g., kyphoscoliosis) | If kyphoscoliosis is identified, consider referral to orthopedist PT for mgmt. |
Allergy/Immunology (for males) | Screen for recurrent infections atopy,2 esp in affected males. | Incl history of recurrent severe or protracted sinopulmonary infections comorbid atopic conditions (asthma, allergic rhinitis, or eczema) |
Hearing | Audiologic eval | Assess for hearing loss. |
Vision | Ophthalmologic eval | Assess for strabismus, myopia, astigmatism. |
Genitourinary | Eval for cryptorchidism, hypospadias, or micropenis in males | If present, consider referral to pediatric urologist /or pediatric endocrinologist. |
Cardiovascular | Consider echocardiography. | To assess for congenital heart defects Genetic |
counseling | By genetics professionals3 | To obtain a pedigree inform affected persons their families or caregivers re nature, MOI, implications of int22h1/int22h2-mediated Xq28 duplication syndrome to allow for informed decision making in medical care, as well as future family planning Family support |
resources | Help connect affected person /or their families w/other affected persons families. | Assessment of family social structure to determine need for:; Community or such as Parent to Parent; Social work involvement for parental support; Home nursing referral ASD = autism spectrum disorder; MOI = mode of inheritance; PT = physical therapist For psychiatric conditions (e.g. |
Int22h1/Int22h2-Mediated Xq28 Duplication Syndrome: Treatment of Manifestations Manifestation/Concern | Treatment | Considerations/Other |
Obesity | Refer for nutritional counseling recommend regular exercise. | — |
Developmental delay/ Intellectual disability/ Neurobehavioral issues | See . | Standard treatment (e.g., SSRIs for anxiety or depression, antipsychotics for psychotic disorders, stimulants for ADHD) Sleep disturbance |
