Table 2 KAT6A clinical advice and guidelines
From: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Medical care: Children should be under the care of a general or community pediatrician to monitor their health and development. |
Speech and language: Children have marked expressive speech delay. Articulation is especially challenging. Many children have significantly benefited from the use of sign language and communication aids. Early speech and language therapy (SALT) is recommended. |
Gastrointestinal: Feeding difficulties and reflux in infancy are common. Short-term nasogastric feeding may be required. Early feeding difficulties appear to be secondary to oromotor dysfunction; early support is recommended. Constipation is common and can be severe; long-term medical management with laxatives is often required. There appears to be an increased risk of malrotation and acute and subacute bowel obstruction; this should be considered for children in acute pain, with decreased bowel movements, or with increased vomiting/reflux. |
Congenital heart disease (CHD): In our cohort approximately 50% of children had congenital heart disease, commonly septal defects and persistent ductus arteriosus. Of those with CHD approximately 50% required surgical intervention. For this reason we recommend all individuals with pathogenic KAT6A mutations should have an electrocardiogram and an echocardiogram. A specialist cardiology review should be considered. |
Vision: Regular visual assessments are recommended. Over half of the individuals in our cohort have experienced strabismus. This can lead to permanent amblyopia if not picked up and treated. Ptosis has been noted in some individuals. Overall, visual defects, including refractive errors and cortical visual impairments, seem to be more common in this patient group. |
Immunity/Infection: Further work is needed to determine whether immunodeficiency including neutropenia is a rare feature of this condition. This possibility should be considered in individuals with recurrent severe infections. Respiratory infections, urinary tract infections, and ear infections are relatively common features and should be considered if unwell. |
Sleep: Many individuals experience difficult initiating and maintaining sleep. Melatonin has been used successfully in some people. Obstructive sleep apnea is more common in this patient group. |
Education: An assessment of special educational needs should be carried out so that extra help can be put in place at school. Some children have behavioral difficulties requiring support. |
