A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome.

The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment. In total, two males and eight females between one and 48 years of age with a genetically confirmed diagnosis of WHS and their parents participated in this study. Deletion sizes were known for seven of the ten patients and varied between 55 Kb and 20 Mb. The chromosome coordinates were known for six of them, and none of those had the same break points in their deletion. The main finding in this study was that patients with WHS may have a better outcome regarding motor skills and expressive communication than previously described. We could confirm the main medical findings described earlier, but found also a population with a less severe dysmorphology, fewer congenital malformations, and fewer medical challenges than expected. Sleep problems may persist into adulthood and need a more thorough investigation. Research on possible indications of ASD is strongly needed for targeted interventions. In conclusion, a more thorough assessment of communication, possible ASD, and sleep in larger groups of patients with WHS are needed to confirm and further investigate the findings from this study and to provide more targeted interventions for WHS patients.

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

The present study aimed to further our understanding of Kleefstra syndrome, especially regarding motor function and behavioral characteristics. In total, four males and four females between two and 27 years of age with a genetically confirmed diagnosis of Kleefstra syndrome and their parents participated in this study. Four patients had 9q34.3 deletions that caused Euchromatin Histone Methyl Transferase 1 (EHMT1) haplo-insufficiency, and four patients harbored EHMT1 mutations. The motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ) and the Child or Adult Behavior Checklist (CBCL, ABCL) were used for the behavioral assessment. All patients showed a delayed developmental status. Muscular hypotonia and its manifestations were present in all patients, regardless of their age. The mean values for all VABS II domains (communication, socialization, daily living skills, and motor skills) were significantly lower than the mean of the reference population (p < 0.001), but similar to other rare intellectual disabilities such as Smith-Magenis syndrome and Angelman syndrome. The results from the SCQ indicated that all patient values exceeded the cut-off value, suggesting the possibility of autism spectrum disorder. The behavioral and emotional problems assessed by CBCL and ABCL were less frequent. In conclusion, patients with Kleefstra syndrome present with a broad range of clinical problems in all age groups and are therefore in need of a multidisciplinary follow-up also after their transition into adulthood.