Deletions in chromosome 17q12 encompassing the HNF1b gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.

The purpose of this study was to evaluate the effect of a multicomponent mathematics intervention (modified schema-based instruction, video anchors, and goal setting with self-graphing) on mathematical problem-solving skills of secondary students with intellectual and developmental disabilities. Three participants were taught to solve percent of change word problems, which involved calculating the discounted price of an item or activity after using a coupon and then determining whether they had enough money to make the purchase. Results of the multiple probe across participant design indicate a functional relation between the intervention and problem solving, and all participants were able to generalize skills from word problems to real-world stimuli (i.e., coupons, receipts, menus). Implications for practice and future research are discussed.

4 16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal brain findings were frequently observed in patients with these rearrangements. We identified and performed a detailed microarray, phenotypic, and radiological characterization of three new patients with 16p11.2 rearrangements: two deletion patients and one patient with the reciprocal duplication. All patients have a heterozygous loss (deletion) or gain (duplication) corresponding to chromosomal coordinates (chr16: 29 528 190-30 107 184) with a minimal size of 579 kb. The deletion patients had language delay and learning disabilities and one met criteria for pervasive developmental disorder not otherwise specified. The duplication patient received a diagnosis of autism and had academic deficits and behavioral problems. The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. The syringomyelia in one patient with deletion was associated with Chiari malformation. Our findings highlight the broad spectrum of clinical and neurological manifestations in patients with 16p11.2 rearrangements. Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients.

The Common Core State Standards in Mathematics outline both the content and practices students must engage in at each grade level to become mathematically proficient. Mathematical processes include problem solving, reasoning and proof, communication, and procedural fluency, which includes flexible thinking. The purpose of this study was to evaluate the effectiveness of modified schema-based instruction (MSBI) on the acquisition and maintenance of math content and practices by middle school students with autism spectrum disorder (ASD). Two middle school students with ASD learned to solve proportional word problems containing extraneous information. Specifically, we measured mathematical problem-solving flexibility and communication using a 4-point rubric. Results of the reversal design found a functional relation between MSBI and the students’ ability to flexibly solve the mathematical word problems and explain their answer, suggesting MSBI may be a useful strategy for some students with ASD.