Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome

Smith-Magenis syndrome (SMS) is a genetic disorder, commonly caused by a 17p11.2 deletion, affecting the Retinoic Acid Induced 1 gene. It affects approximately 1 in 25,000 individuals, with over 90% engaging in challenging behaviors. Function-based treatments, using the principles of applied behavior analysis, have consistently been shown to decrease challenging behaviors exhibited by individuals with developmental delays. However, additional research is needed to determine the effects of these interventions with specific diagnostic subsets, including SMS. The current study identified the function of challenging behavior for 2 children with SMS and found a function-based treatment, consisting of differential reinforcement and extinction, reduced challenging behavior for both.

Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

ABSTRACT The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.