In mammals, the circadian clocks network (central and peripheral oscillators) controls circadian rhythms and orchestrates the expression of a range of downstream genes, allowing the organism to anticipate and adapt to environmental changes. Beyond their role in circadian rhythms, several studies have highlighted that circadian clock genes may have a more widespread physiological effect on cognition, mood, and reward-related behaviors. Furthermore, single nucleotide polymorphisms in core circadian clock genes have been associated with psychiatric disorders (such as autism spectrum disorder, schizophrenia, anxiety disorders, major depressive disorder, bipolar disorder, and attention deficit hyperactivity disorder). However, the underlying mechanisms of these associations remain to be ascertained and the cause–effect relationships are not clearly established. The objective of this article is to clarify the role of clock genes and altered sleep–wake rhythms in the development of psychiatric disorders (sleep problems are often observed at early onset of psychiatric disorders). First, the molecular mechanisms of circadian rhythms are described. Then, the relationships between disrupted circadian rhythms, including sleep–wake rhythms, and psychiatric disorders are discussed. Further research may open interesting perspectives with promising avenues for early detection and therapeutic intervention in psychiatric disorders.
BackgroundThe need for early treatment of autism spectrum disorders (ASD) necessitates early screening. Very few tools have been prospectively tested with infants of less than 12 months of age. The PREAUT grid is based on dyadic assessment through interaction and shared emotion and showed good metrics for predicting ASD in very-high-risk infants with West syndrome.MethodsWe assessed the ability of the PREAUT grid to predict ASD in low-risk individuals by prospectively following and screening 12,179 infants with the PREAUT grid at four (PREAUT-4) and nine (PREAUT-9) months of age. A sample of 4,835 toddlers completed the Checklist for Autism in Toddlers (CHAT) at 24 months (CHAT-24) of age. Children who were positive at one screening (N = 100) were proposed a clinical assessment (including the Children Autism Rating Scale, a Developmental Quotient, and an ICD-10-based clinical diagnosis if appropriate) in the third year of life. A randomly selected sample of 1,100 individuals who were negative at all screenings was followed by the PMI team from three to five years of age to identify prospective false negative cases. The clinical outcome was available for 45% (N = 45) of positive children and 52.6% (N = 579) of negative children.ResultsOf the 100 children who screened positive, 45 received a diagnosis at follow-up. Among those receiving a diagnosis, 22 were healthy, 10 were diagnosed with ASD, seven with intellectual disability (ID), and six had another developmental disorder. Thus, 50% of infants positive at one screening subsequently received a neurodevelopmental diagnosis. The PREAUT grid scores were significantly associated with medium and high ASD risk status on the CHAT at 24 months (odds ratio of 12.1 (95%CI: 3.0–36.8), p < 0.001, at four months and 38.1 (95%CI: 3.65–220.3), p < 0.001, at nine months). Sensitivity (Se), specificity, negative predictive values, and positive predictive values (PPVs) for PREAUT at four or nine months, and CHAT at 24 months, were similar [PREAUT-4: Se = 16.0 to 20.6%, PPV = 25.4 to 26.3%; PREAUT-9: Se = 30.5 to 41.2%, PPV = 20.2 to 36.4%; and CHAT-24: Se = 33.9 to 41.5%, PPV = 27.3 to 25.9%]. The repeated use of the screening instruments increased the Se but not PPV estimates [PREAUT and CHAT combined: Se = 67.9 to 77.7%, PPV = 19.0 to 28.0%].ConclusionsThe PREAUT grid can contribute to very early detection of ASD and its combination with the CHAT may improve the early diagnosis of ASD and other neurodevelopmental disorders.
Background: Altered motor performance has been described in Autism Spectrum Disorders (ASD) with disturbances in walking; posture, coordination, or arm movements, but some individuals with ASD show no impairment of motor skills. The neuro-developmental processes that underpin the performance of neuro-psychomotor functions have not been widely explored, nor is it clear whether there are neuro-psychomotor functions specifically affected in ASD. Our objective was to focus on the semiology of motor disorders among children with ASD using a neuro-developmental assessment tool.Method: Thirty-four children with ASD, with or without intellectual deficit (ID) were recruited in a child psychiatry department and Autism Resource Centers. Initial standard evaluations for diagnosis (psychiatric; psychological; psychomotor) were supplemented by a standardized assessment battery for neuro-developmental psychomotor functions (NP-MOT).Results: The results of some NP-MOT tests differed between children with ASD with ID and those without. However, on the NP-MOT battery, neither of the two groups did well in the bi-manual and finger praxia tests (36 and 52% respectively failed). Manual and digital gnosopraxia showed some deficit (63 and 62% respectively failed). Postural deficits were found in tests for both static equilibrium (64%) and dynamic (52%). There were also difficulties in coordination between the upper and lower limbs in 58% of children. We found 75% failure in motor skills on the M-ABC test. Concerning muscular tone, significant laxity was observed in distal parts of the body (feet and hands), but hypertonia was observed in the proximal muscles of the lower limbs (reduced heel-ear angle).Discussion: The results of manual and digital gnosopraxia tests point to a planning deficit in children with autism. A gesture programming deficit is also highlighted by the poor results in manual praxis, and by failures in the M-ABC tests despite prior training of the child. However, concerning global motor function, a significant difference was observed between children with and without ID. Our findings suggest a semiology of tone deregulation between proximal versus distal muscles, indeterminate tonic laterality, postural control deficit (proprioceptive), impairment of inter-hemispheric coordination (corpus callosum), and neurological soft signs such asdysdiadochokinesia, which leads us to hypothesize a general impairment of motor functions.
The children versions of the PDI and PDEQ are reliable and valid in children.
Motor symptomatology in autism is currently poorly understood, and still not included in the autism spectrum disorder (ASD) diagnostic criteria, although some studies suggest the presence of motor disturbances in this syndrome. We provide here a literature review on early motor symptoms in autism, focusing on studies on psychomotor issues (tone, postural control, manual dexterity, handedness, praxis). The approach adopted in research to study altered motor behaviors is generally global and there is no detailed semiology of the motor or neuromotor disorders observed in people with ASD. This global approach does not enable understanding of the neuro-developmental mechanisms involved in ASD. Identification of clinical neuro-psychomotor profiles in reference to a standard would help to better understand the origin and the nature of the disorders encountered in ASD, and would thus give new directions for treatment.
Peritraumatic response and PTSD symptoms should be routinely assessed among parents whose child has experienced a traumatic event.
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