A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.

Introduction: Congenital disorders of glycosylation (CDG) are inherited inborn errors of metabolism due to abnormal protein and lipid glycosylation that present with multi-systemic manifestations. The heterogeneity of CDG poses a serious diagnostic challenge; therefore, whole-exome sequencing (WES), which plays an increasingly important role in the molecular diagnosis of CDG, is used for examining patients with CDG.

Case Report: We report the case of a two-month-old male patient who developed developmental and epileptic encephalopathy (DEE) with intractable seizures and microcephaly.

[Pulmonary atelectasis in patients with neurological or muscular disease; gravity-related lung compression by the heart and intra-abdominal organs on persistent supine position].

We report 10 cases of pulmonary atelectasis diagnosed by chest computed tomography in patients with neurological or muscular disease. Atelectasis was frequently seen in hypotonic patients who could not roll over on their own. The atelectases located mostly in the dorsal bronchopulmonary segments, adjacent to the heart or diaphragm.

[Study of situational recognition of attention deficit/hyperactivity disorders, Asperger's disorder and high functioning autism with the Metaphor and Sarcasm Scenario Test (MSST)].

The purpose of this study is to clear up the difference between Asperger's disorder (AS) and high functioning autism (HFA) with a newly developed test, the metaphor and sarcasm scenario test (MSST) can be used to distinguish pervasive developmental disorder (PDD) from attention deficit/hyperactivity disorders (AD/HD). So 66 AS children, 20 HFA children and 37 AD/HD children were selected, compared the profiles of score on the MSST. The results showed that the inability to understand sarcastic situation was specific to group with AS, both group with HFA and AD/HD were differ little to understand between metaphor and sarcasm.

The metaphor and sarcasm scenario test: a new instrument to help differentiate high functioning pervasive developmental disorder from attention deficit/hyperactivity disorder.

It is sometimes difficult to discriminate high functioning pervasive developmental disorders (HFPDD) from attention deficit/hyperactivity disorders (AD/HD) in young children because of the behavioral similarities between the two. For adequate diagnosis, understanding fundamental differences in their social cognitive abilities might become significant. In order to detect the differences in social cognitive abilities between AD/HD and HFPDD, a new test, the Metaphor and Sarcasm Scenario Test (MSST) was developed.