Assessment of mental disorders in preschoolers: the multiaxial profiles of diagnostic classification 0-3.

A group of 291 preschoolers consecutively enrolled at the Early Childhood Mental Health Service of IRCSS Stella Maris (Italy) were assessed using the Diagnostic Classification Zero to Three (DC:0-3; ZERO TO THREE, 1994). All active variables were extracted from its five axes, and a multiple correspondence analysis was performed. This analysis evidenced four multiaxial clinical profiles: (a) Multisystem developmental disorders (Axis I) were correlated with the underinvolved quality of relationship (Axis II), medical conditions (Axis III), and a low level of emotional functioning (Axis V); (b) regulatory disorders (Axis I) were correlated with maladaptive or angry/hostile relationship (Axis II), medical conditions (Axis III), and an immature level of emotional functioning (Axis V); (c) affective disorders (Axis I) were correlated with anxious/tense relationship (Axis II), stress factors (Axis IV), and emotional functioning vulnerable to stress (Axis V); and (d) adjustment, feeding, and sleeping disorders (Axis I) were correlated with mild relationship disorders (Axis II) and important impact of stress factors (Axis IV). These findings support DC:0-3 as a valid tool to detect multiaxial profiles that could be useful to plan comprehensive treatments of the disorders.

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope. RESULTS: Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype. CONCLUSIONS: The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant.