Treating Fragile X syndrome with the diuretic bumetanide: a case report.

UNLABELLED: We report that daily administration of the diuretic NKCC1 chloride co-transporter, bumetanide, reduces the severity of autism in a 10-year-old Fragile X boy using CARS, ADOS, ABC, RDEG and RRB before and after treatment. In keeping with extensive clinical use of this diuretic, the only side effect was a small hypokalaemia. A double-blind clinical trial is warranted to test the efficacy of bumetanide in FRX. CONCLUSION: This single case report showed an improvement of the scores of each test used after 3 months of treatment. Double-blind clinical trials are warranted to test the efficacy of bumetanide in FRX.

Self/other distinction in adolescents with autism spectrum disorder (ASD) assessed with a double mirror paradigm.

BACKGROUND: Self/other distinction (SOD), which refers to the ability to distinguish one's own body, actions, and mental representations from those of others, is an essential skill for effective social interaction. A large body of clinical evidence suggests that disruptions in SOD may be key to social communication deficits in individuals with autism spectrum disorders (ASD). In particular, egocentric biases have been found in cognitive, affective, behavioural, and motor domains. However, research in this area is scarce and consists of recognition paradigms that have used only static images; these methods may be insufficient for assessing SOD, given the increasing role of embodiment in our understanding of the pathophysiology of ASD. METHOD: A single-centre, prospective pilot study was carried out to investigate, for the first time, self-recognition and SOD in seven adolescents with ASD compared with matched, typically developing controls (TDCs) using the "Alter Ego"TM double mirror paradigm. The participants viewed a double mirror in which their own face was gradually morphed into the face of an unfamiliar other (self-to-other sequence) or vice versa (other-to-self sequence); participants were instructed to indicate at which point the morph looked more like their own face than the other's face. Two judgement criteria were used: 1) M1: the threshold at which subjects started to recognize their own face during the other-to-self morphing sequence; 2) M2: the threshold at which subjects started to recognize the other's face during the self-to-other morphing sequence. RESULTS: Consistent with the predictions, the results showed that the participants with ASD exhibited earlier self-recognition in the other-to-self sequence and delayed other-recognition in the self-to-other sequence, suggesting an egocentric bias. SOD impairments were also marginally correlated with ASD severity, indicating earlier face recognition in more severely affected individuals. Furthermore, in contrast with that of TDCs, the critical threshold for switching between self and other varied with the direction of morphing in ASD participants. Finally, these differences in face recognition and SOD using mirrors, unlike previous research using static images, support the central place of bodily self-consciousness in SOD impairments. CONCLUSIONS: Although additional research is needed to replicate the results of this preliminary study, it revealed the first behavioural evidence of altered SOD in ASD individuals on an embodied, semiecological face-recognition paradigm. Implications for understanding ASD are discussed from a developmental perspective, and new research and therapeutic perspectives are presented.

Early Motor Skills in Children With Autism Spectrum Disorders Are Marked by Less Frequent Hand and Knees Crawling.

Our aim in this study was to affirm or negate (quantitatively) our subjective impression of altered hands and knees crawling (H&K crawling) among children with Autism Spectrum Disorder (ASD). Through parental questionnaires and children's health records, we retrospectively compared early motor skills, including the frequency of H&K crawling in 79 children with Autistic Disorder or Asperger Syndrome versus 100 children with typical development (TD). We found H&K crawling to be significantly less frequent among children with ASD (44.2%) versus children with TD (69%). Children with ASD also showed a decreased frequency of acquiring a seating position without help and a later mean walking age compared to the TD children. These data suggest that early motor development delays may be a useful sign for detecting ASD at early ages.

The effect of bumetanide treatment on the sensory behaviours of a young girl with Asperger syndrome.

Sensory behaviours were not considered as core features of autism spectrum disorders until recently. However, they constitute an important part of the observed symptoms that result in social maladjustment and are currently quite difficult to treat. One promising strategy for the treatment of these behaviours is the use of bumetanide, which was previously shown to reduce the severity of autism spectrum disorders. In this study, we proposed to evaluate sensory behaviours using Dunn's Sensory Profile after 18 months of bumetanide treatment in a 10-year-old girl with Asperger syndrome. Reported improvements covered a large range of sensory behaviours, including auditory, vestibular, tactile, multisensory and oral sensory processing. Although our results were limited to a single case report, we believe that our clinical observations warrant clinical trials to test the long-term efficacy of bumetanide to manage the sensory behaviours of people with autism spectrum disorders.