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Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disorder caused by heterozygous mutations in the transient receptor potential cation channel (TRPV4) gene, characterized by progressive scapuloperoneal atrophy and weakness. Additional features, such as vocal cord paralysis, scoliosis and/or arthrogryposis, are likely to occur. We report the first Italian family with SPSMA, harboring the c.806G>A mutation in TRPV4 gene (p. R269H). The pattern of expression was variable: the father showed a mild muscular involvement, while the son presented at birth skeletal dysplasia and a progressive course. We reinforce the concept that the disease can be more severe in the following generations. The disorder should be considered in scapuloperoneal syndromes with autosomal dominant inheritance and a neurogenic pattern. The presence of skeletal deformities strongly supports this suspicion. An early diagnosis of SPSMA may be crucial in order to prevent the more severe congenital form., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Two experiments were reported investigating the conditions that elicit request-making in the moderately and the severely mentally retarded. In both experiments single-subject designs were used with a store game task designed to closely approximate a naturalistic communication situation. In the first experiment moderately retarded adults were able to consistently communicate which of two objects they wished to obtain from a store counter. In the second, severely retarded adolescents initially made some errors but communicated effectively on 100% of the trials by the end of the experiment. These results contrast markedly with the results from the less naturalistic task used previously. In both experiments the amount of verbalization was greater when the task was arranged to create a demand for communication. Applications of these findings to everyday communicative situations involving the mentally retarded are discussed.