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Background: SMA affects individuals with a broad age range and spectrum of disease severity. Risdiplam (EVRYSDI®) is a centrally and peripherally distributed, oral SMN2 pre-mRNA splicing modifier. Methods: SUNFISH is a multicenter, two-part, randomized, placebo-controlled, double-blind study in patients with Types 2/3 SMA. Part 1 assessed the safety, tolerability and pharmacokinetics/pharmacodynamics of different risdiplam dose levels in patients with Types 2/3 SMA. Part 2 assessed the efficacy and safety of the selected dose of risdiplam versus placebo in Type 2 and non-ambulant Type 3 SMA. In Part 2, participants were treated with risdiplam or placebo for 12 months, then received risdiplam in a blinded manner until month 24. At month 24, patients were offered the opportunity to enter the open-label extension phase. Results: Change from baseline in MFM32 total score (Part 2- primary endpoint) in patients treated with risdiplam versus placebo was met at month 12. These increases in motor function were sustained in the second and third year after risdiplam treatment. Here we present 4-year efficacy and safety data from SUNFISH. Conclusions: SUNFISH is ongoing and will provide further long-term efficacy and safety data of risdiplam in a broad population of individuals with SMA.
Romantic and sexual functioning in individuals with autism spectrum disorder (ASD) are understudied. Recent findings evidenced that adolescents and adults with present romantic and sexual behaviors comparable with their neurotypical peers. However, it is worth to note that dysfunctional and inappropriate romantic and sexual behaviors are often described in this population.
To investigate efficacy of a psycho-educational training in a small group of adolescent with high-functioning ASD (HFA, QI > 70).
Six adolescents (all males, range age 14–16 years) have been evaluated before (T0) and after (T1) a 10-session sexual and romantic psycho-educational structured group training, of 90′ each session. Clinical evaluation included parent-report questionnaires, as SBS for sexual behaviors and CBCL for behavioral problems, and a self-report questionnaire for sexual behaviors, called SESAMO. Moreover, autistic symptoms were investigated with ADOS-2 at T0.
Preliminary analysis revealed a statistically significant differences between T0 and T1 in sexual education (P = 0.02) and frequency of dysfunctional sexual behaviors (P = 0.02) of SBS and in sexual expectations about the partner in SESAMO (P = 0.04). No differences were found in CBCL.
Preliminary results showed an improvement of romantic and sexual functioning in adolescent boys with HFA, as reported by either parents and adolescents, after participating to a structured psycho-educational training. More sexual education and information, less inappropriate sexual behaviors and more-appropriate expectations about potential partner were reported at the end of the training. These results should be confirmed in studies including larger ASD and control sample.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
Observing another person performing a complex action accelerates the observer's acquisition of the same action and limits the time-consuming process of learning by trial and error. Learning by observation requires specific skills such as attending, imitating and understanding contingencies. Individuals with autism spectrum disorder (ASD) exhibit deficits in these skills.
The performance of 20 ASD children was compared with that of a group of typically developing (TD) children matched for chronological age (CA), IQ and gender on tasks of learning of a visuomotor sequence by observation or by trial and error. Acquiring the correct sequence involved three phases: a detection phase (DP), in which participants discovered the correct sequence and learned how to perform the task; an exercise phase (EP), in which they reproduced the sequence until performance was error free; and an automatization phase (AP), in which by repeating the error-free sequence they became accurate and speedy.
In the DP, ASD children were impaired in detecting a sequence by trial and error only when the task was proposed as first, whereas they were as efficient as TD children in detecting a sequence by observation. In the EP, ASD children were as efficient as TD children. In the AP, ASD children were impaired in automatizing the sequence. Although the positive effect of learning by observation was evident, ASD children made a high number of imitative errors, indicating marked tendencies to hyperimitate.
These findings demonstrate the imitative abilities of ASD children although the presence of imitative errors indicates an impairment in the control of imitative behaviours.
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