In instances of feeding difficulties requiring assistance, a gastric feeding tube may be necessary.
To enhance mobility, gross and fine motor skills, occupational and physical therapy is recommended to address hypotonia and contractures.
In warranted cases, surgical correction of adducted thumbs may be performed.
Speech and language therapy can be used to improve communication, and sign language can be employed in non-verbal cases.
Current therapy for cryptorchidism is human chorionic gonadotropin for genital developmental stimulation, and/or orchidopexy if necessary.
In cases of growth hormone deficiency, human growth hormone (HGH) should be considered. While no studies of HGH treatment have been performed in individuals with Schaaf-Yang syndrome, this regimen has been investigated in patients with Prader-Willi syndrome, and there is reason to believe that the effects may be similar in both groups. HGH treatment may improve height, muscle mass, weight distribution, stamina, and bone mineral density. In addition, studies in Prader-Willi syndrome suggest its positive effects on development and behavior.
Because of the high prevalence of autism spectrum disorder among individuals with Schaaf-Yang syndrome, a formal autism assessment should be performed.
As well, a sleep study should be performed to assess sleep disturbances and/or the presence of apnea.
There is considerable discussion about oxytocin as a potential therapeutic for Prader-Willi syndrome, autism spectrum disorder, and potentially for those with mutations in MAGEL2. As this information progresses, we will update accordingly to provide current therapeutic options.