Psychomotor retardation: What about the partial responders to magnetic transcranial stimulation in treatment resistant depression ?

OBJECTIVE: Psychomotor retardation is a core clinical component of Major Depressive Disorder responsible for disability and is known as a treatment response marker of biological treatments for depression. Our objective was to describe cognitive and motoric measures changes during a treatment by repetitive Transcranial Magnetic Stimulation (rTMS) within the THETAD-DEP trial for treatment-resistant depression (TRD), and compare those performances at the end of treatment and one month after between responders (>50% improvement on MADRS score), partial responders (25-50%) and non-reponders (no clinically relevant improvement). Our secondary aim was to investigate baseline psychomotor performances associated with non-response and response even partial. METHODS: Fifty-four patients with treatment-resistant unipolar depression and treated by either high frequency 10 Hz rTMS or iTBS for 4 weeks (20 sessions) underwent assessment including French Retardation Rating Scale for Depression (ERD), Verbal Fluency test, and Trail Making Test A. before, just after treatment and one month later. RESULTS: 20 patients were responders (R, 21 partial responders (PR) and 13 non-responders (NR). rTMS treatment improved psychomotor performances in the R and PR groups unlike NR patients whose psychomotor performance was not enhanced by treatment. At baseline, participants, later identified as partial responders, showed significantly higher performances than non-responders. CONCLUSION: Higher cognitivo-motor performances at baseline may be associated with clinical improvement after rTMS treatment. This work highlights the value of objective psychomotor testing for the identification of rTMS responders and partial responders, and thus may be useful for patient selection and protocol individualization such as treatment continuation for early partial responders.

A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.

Motor proteins, encoded by Kinesin superfamily (KIF) genes, are critical for brain development and plasticity. Increasing studies reported KIF's roles in neurodevelopmental disorders. Here, a 6 years and 3 months-old Chinese boy with markedly symptomatic epilepsy, intellectual disability, brain atrophy, and psychomotor retardation was investigated. His parents and younger sister were phenotypically normal and had no disease-related family history. Whole exome sequencing identified a novel heterozygous in-frame deletion (c.265_267delTCA) in exon 3 of the KIF5C in the proband, resulting in the removal of evolutionarily highly conserved p.Ser90, located in its ATP-binding domain. Sanger sequencing excluded the proband's parents and family members from harboring this variant. The activity of ATP hydrolysis in vitro was significantly reduced as predicted. Immunofluorescence studies showed wild-type KIF5C was widely distributed throughout the cytoplasm, while mutant KIF5C was colocalized with microtubules. The live-cell imaging of the cargo-trafficking assay revealed that mutant KIF5C lost the peroxisome-transporting ability. Drosophila models also confirmed p.Ser90del's essential role in nervous system development. This study emphasized the importance of the KIF5C gene in intracellular cargo-transport as well as germline variants that lead to neurodevelopmental disorders and might enable clinicians for timely and accurate diagnosis and disease management in the future.

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.

The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.

Persistencia del cavum septum pellucidum y cavum vergae asociado a retraso psicomotor. Informe de caso

Fundamento: Dos de las tres formas en que se presentan los quistes intracraneales de la línea media anterior son: cavum septum pellucidum y cavum vergae; estos normalmente desaparecen después del nacimiento, de persistir suelen ser asintomáticos, pero también pueden estar asociados a manifestaciones obstructivas, trastornos psicóticos o alteraciones del neurodesarrollo que demandan de un seguimiento clínico. Objetivo: Reportar el caso de un paciente de 6 meses con persistencia de estructuras del periodo embrionario en posible asociación con retraso del desarrollo psicomotor. Presentación de caso: Por lo infrecuente que resulta en la práctica, se informa el caso de un paciente de 6 meses con una persistencia del cavum septum pellucidum y cavum vergae en el que se destaca la posible asociación del retraso del neurodesarrollo a la persistencia de estas estructuras. El diagnóstico se realizó de forma precoz y se intervino oportunamente. Conclusiones: La presentación del caso aportó evidencias epidemiológicas que favorecen la posible asociación entre la persistencia de estas estructuras embrionarias y el retraso del desarrollo psicomotor.

Background: Two out of the three forms in which intracranial anterior midline cysts present are: These usually disappear after birth; if they persist, they are often asymptomatic, but may also be associated with obstructive manifestations, psychotic disorders or neurodevelopmental disorders that require clinical follow up. Objective: To report a case of a 6-month-old patient with persistence of embryonic period structures in possible association with psychomotor developmental retardation. Case presentation: Because of how infrequent it is in practice, a case of a 6-month-old patient with a persistent cavum septum pellucidum and cavum vergae is reported in which the possible association of neurodevelopmental delay with the persistence of these structures is pointed out. The diagnosis was made in an early manner and it was timely intervened. Conclusions: The case presentation provided epidemiological evidences that encourage the possible association among the persistence of these embryonic structures and psychomotor developmental retardation.

A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report.

We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained. He also presented epilepsy, outbursts of laughter, and predisposition to drug adverse effects (skin lesions with carbamazepine and secondary parkinsonism).

Using different types of visual reaction time measurements for assessing cognitive difficulties in depression.

There is a need for objective, easy and relatively short methods to diagnose cognition in depression. We have constructed a set of simple visual tasks using three different ways of speed measuring: paper-pencil-based, computer-based, and eye-tracking based. We used a single case design with 22 participants. A clinical group counted 11 patients with major depression examined two times (first examination without medication and second after three months of medical treatment) together with a group of 11 matched healthy controls. Cognitive difficulties were observable in all the checked levels of performance. The weakest in all tasks were patients before medication, some improvement was observed after medical treatment, but not matching the level of healthy controls. Cognitive difficulties were not eliminated by medical treatment as quickly as emotional disturbances were. The observed difficulties could be interpreted in terms of psychomotor retardation, a typical symptom in depression, which proved to be mainly cognitive as the analysis of differences in reaction times and the first saccade latencies concluded. The analysis of simple visual reaction times on several stages turned out to be a promising method to measure the cognitive state in persons with mood disorders and cognitive convalescence during major depressive disorder treatment.

Rethinking Catatonia: New Insights from the Autism Spectrum.

Initially conceptualized as a subtype of schizophrenia, catatonia has progressively been recognized to occur in a wide variety of conditions as a kind of final common pathway for many severe mental disorders. There is a significant overlap between the fundamental symptoms of autism spectrum disorder (ASD) and catatonia, and ASD can frequently complicate catatonic states. While provocative, the hypothesis that neuroatypicality may represent the submerged structural piece underlying catatonic states is intriguing. Yet, the multifaced relationship between catatonia and ASD may provide new insights into the etiology and treatment of both disorders.

The Behavioral Mapping of Psychomotor Slowing in Psychosis Demonstrates Heterogeneity Among Patients Suggesting Distinct Pathobiology.

OBJECTIVES: Psychomotor slowing (PS) occurs in up to half of schizophrenia patients and is linked to poorer outcomes. As standard treatment fails to improve PS, novel approaches are needed. Here, we applied the RDoC framework using 3 units of analysis, ie, behavior, self-report, and physiology to test, whether patients with PS are different from patients without PS and controls. METHODS: Motor behavior was compared between 71 schizophrenia patients with PS, 25 without PS, and 42 healthy controls (HC) using 5 different measures: (1) for behavior, an expert rating scale: Motor score of the Salpêtrière Retardation Rating Scale, (2) for self-report, the International Physical Activity Questionnaire; and for physiology, (3) Actigraphy, which accounts for gross motor behavior, (4) Gait velocity, and (5) coin rotation task to assess manual dexterity. RESULTS: The ANCOVAs comparing the 3 groups revealed differences between patients with PS and HC in expert ratings, self-report, and instrumental measures (all P ≤ .001). Patients with PS also scored higher in expert ratings and had lower instrumental activity levels compared to patients without PS (all P ≤ .045). Instrumental activity levels correlated with an expert rating of PS (rho = -0.51, P-fdr corrected <.001) and classified similarly at 72% accuracy. CONCLUSIONS: PS is characterized by slower gait, lower activity levels, and slower finger movements compared to HC. However, only actigraphy and observer ratings enable to clearly disentangle PS from non-PS patients. Actigraphy may become the standard assessment of PS in neuroimaging studies and clinical trials.

A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.

Partial 16p trisomy syndrome is a rare disorder typically characterized by psychomotor retardation, prenatal and postnatal growth deficiency, cleft palate, and facial dysmorphism, with some patients also presenting with heart defects and urogenital anomalies. Pure 16p13.3 duplications usually occur de novo, while those duplications that associate with partial monosomy result rather from parental chromosomal translocations. Due to the large size of the aberrations, the majority of patients are identified by standard chromosome analysis. In all published cases, the minimal-causative duplicated region encompasses the CREBBP gene. Here, we report on the patient presenting with psychomotor retardation, femoral hypoplasia, and some features of the partial 16p trisomy syndrome, who carries a complex de novo terminal 16p13.3 microduplication with an overlapping region of amplification without translocation or associated monosomy. In contrast to the previously reported cases, the duplicated region of the patient does not involve CREBBP and other neighboring genes; still, the observed pattern of dysmorphic features of the index is characteristic of the described syndrome. Based on the animal studies and other published cases, we discuss the possible role of the PDK1 and IGFALS genes in the development of limb anomalies, while IFT140 could contribute both to the observed femoral phenotype and heart abnormalities in the patient. To the best of our knowledge, we present a proband harboring the smallest terminal 16p13.3 duplication of the size below 3 Mb. Therefore, our proband with her detailed phenotypic description may be helpful for clinicians who consult patients with this syndrome.

Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood.

Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.

Correlation of psychomotor retardation with plasma G-CSF and M-CSF levels in patients with major depressive disorder / 四川精神卫生

BackgroundThe etiopathogenesis of major depressive disorder （MDD） is strongly associated with neuroinflammation. MDD is a highly heterogeneous psychiatric disorder， and the disease subtyping is an essential step for the identification of biological markers. The presence of psychomotor retardation seriously affects the prognosis of MDD， whereas the underlying mechanism is not yet completely clear. A potential involvement of granulocyte colony-stimulating factor （G-CSF） and macrophage colony-stimulating factor （M-CSF） in the pathogenesis of MDD with psychomotor retardation has been suggested in previous studies， but little detailed research has been completed. ObjectiveTo analyze the correlation of plasma G-CSF and M-CSF levels with psychomotor retardation in patients with MDD， and to explore the potential biological underpinnings of psychomotor retardation in MDD. MethodsA total of 50 MDD patients who met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） and attended the outpatient clinics of Shanghai Mental Health Center from April 2018 to April 2019 were included. The severity of symptoms was assessed using the Hamilton Depression Scale-17 item （HAMD-17）. According to the retardation factor in HAMD-17， patients with a score of ≥8 were included in retardation group （n=22）， and those with a score below 8 were included in non-retardation group （n=28）. Another 22 age- and sex-matched healthy controls were concurrently recruited. Plasma G-CSF and M-CSF levels were measured in all subjects using Luminex liquid suspension chip technology. Spearman correlation analysis was adopted to verify the correlation of retardation factor score in HAMD-17 with plasma G-CSF and M-CSF levels in MDD patients. ResultsPlasma G-CSF levels were decreased in MDD patients compared with healthy controls ［57.34（39.24， 83.15）pg/mL vs. 71.47（61.20， 79.99）pg/mL， Z=-2.098， P<0.05］. A statistical difference was found in plasma G-CSF level ［63.92（54.60， 89.43）pg/mL vs. 47.80（33.41， 74.66）pg/mL vs. 71.47（61.20， 79.99）pg/mL， H=8.247， P=0.016］ and plasma M-CSF level ［20.05（16.05， 22.23）pg/mL vs. 13.05（11.43， 17.50）pg/mL vs. 18.95（14.59， 22.88）pg/mL， H=7.620， P=0.022］ among retardation group， non-retardation group and healthy control group. The post hoc pairwise comparisons using Bonferroni correction indicated that plasma G-CSF level was lower in non-retardation group compared with healthy control group （adjusted P<0.05）， and plasma M-CSF level was higher in retardation group compared with non-retardation group （adjusted P<0.05）. The retardation factor score in HAMD-17 was positively correlated with plasma M-CSF level in MDD patients （r=0.348， P<0.05）. ConclusionThe prevalence of psychomotor retardation in MDD patients may be related to abnormally elevated plasma M-CSF level. ［Funded by Shanghai "Science and Technology Innovation Action Plan" Project in Medical Innovation Research Field （number， 21Y11905600）； Shanghai "Science and Technology Innovation Action Plan" Project in Natural Science Field （number， 21ZR1455100）； Shanghai Mental Health Center Scientific Research Project （number， 2021-YJ02）］

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Background: Recently, the hemizygous variation of SSR4 gene has been reported to be associated with congenital disorder of glycosylation type Iy. To date, only 13 patients have been diagnosed with SSR4-CDG in the worldwide, but it has not been reported in the Chinese population. Methods: Whole-exome sequencing and gene copy number variation analysis were used to genetic analysis. The mRNA expression of SSR4 gene in blood was detected by Real-time Quantitative PCR. The clinical manifestations of all patients reported in the literature were reviewed. Results: WES analysis identified a de novo hemizygous variant c.269G>A (p.Trp90*) of SSR4 gene in the proband with psychomotor retardation, microcephaly, abnormal facial features, and nystagmus. This variant has not been reported in previous studies. The in vivo mRNA expression of SSR4 gene in patient was significantly decreased. Literature review showed that all 14 patients, including our patient, presented with hypotonia, intellectual disability, developmental delay, microcephaly, and abnormal facial features, while most patients had feeding difficulties, growth retardation, and ocular abnormalities, and epilepsy and skeletal abnormalities are less common. Conclusion: We reported the first case of SSR4-CDG caused by SSR4 variant in Chinese population, expanded the clinical and mutation spectra of the disorder, clarified the genetic etiology of the patient, and offered support for the prenatal diagnosis of the index family.

COMT Val158Met Polymorphism Influences the Cerebral Blood Flow Changes Related to Psychomotor Retardation in Major Depressive Disorder.

Background: Previous studies revealed different cerebral blood flow (CBF) changes of major depressive disorder (MDD) patients with psychomotor retardation (PMR). These different changes might result from the modulation of other factors, such as genes. This study aimed to investigate the influence of COMT Val158Met polymorphism on the CBF alterations in MDD patients with PMR. Methods: COMT Val158Met genotypes and arterial spin labeling-magnetic resonance imaging (ASL-MRI) data of 103 Chinese Han participants (63 MDD, 40 NCs) were collected in this study. MDD patients were divided into PMR group (N = 23) and NPMR group (N = 40) according to the Salpetriere Retardation Rating Scale score. PMR, NPMR and NCs groups were further divided into two subgroups, respectively, based on the COMT Val158Met genotype. CBF throughout the whole brain was calculated based on the ASL-MRI data. A two-way factorial analysis of covariance was used to investigate the main effects of PMR, COMT Met allele, as well as the interactions between COMT genotype and PMR on the CBF in a voxel-wise manner. Partial correlation analyses were also applied to evaluate the association between the CBF of significant brain regions and the PMR severity. Results: Main effect of PMR mainly influenced the CBF of the prefrontal cortex (PFC). Main effect of COMT Met allele mainly influenced the CBF of the thalamus. The interaction between PMR and COMT Met allele primarily influenced the CBF of left precuneus and right caudate. The CBF of PFC was positively correlated with the PMR severity. Conclusion: Our findings indicate that the COMT Met allele could modulate the CBF changes of the left precuneus and right caudate in MDD patients with PMR, providing additional layer of information regarding earlier reports for different CBF changes of MDD patients with psychomotor retardation in the literature, which were assessed irrespective of polymorphisms among patients.

Sensory processing in depression: Assessment and intervention perspective.

Few studies have examined sensory processing in mood disorders, including depression. The interactions between sensory inputs and adaptive behaviour have yet to be clarified in this pathology. We assessed sensory profiles among people with major depressive disorder (MDD) with the Adult/Adolescent Sensory Profile scale and determined whether sensory processing patterns were associated with clinical variables such as anxiety, depression, psychomotor retardation or self-esteem. We compared 25 participants with MDD (MDD group) and 25 healthy controls (HC group) to identify sensory processing patterns (low registration, sensation seeking, sensory sensitivity and sensation avoiding). The Hamilton Depression Rating Scale and Clinical Outcomes in Routine Evaluation scale were used to assess depressive symptomatology. Both groups completed the Hamilton Anxiety Rating Scale, Frontal Assessment Battery and Rosenberg Self-Esteem Inventory. The MDD group significantly differed from the HC group in each sensory processing patterns. They had higher low registration (p < 0.001), sensory sensitivity (p < 0.001) and sensation avoidance (p < 0.001) and lower sensation seeking (p = 0.005) than HC. Extreme sensory processing patterns in MDD patients were linked to depressive symptomatology, including anxiety. Sensory processing disorders should be assessed and taken into account when developing nondrug treatment strategies.

Characteristics of psychomotor retardation distinguishes patients with depression using multichannel near-infrared spectroscopy and finger tapping task.

BACKGROUND: Psychomotor retardation (PMR) is frequently noted as a characteristic feature of major depressive disorder (MDD). In patients with depression, it is characterized by retardation of speech, emotion, thinking, and cognition. This study explored the activation pattern of the prefrontal cortex (PFC) during the finger-tapping task (FTT) in subjects with MDD, aiming to provide additional understanding on the connection between PMR and PFC activation pattern in depression through the use of near-Infrared Spectroscopy (NIRS). We hypothesized that, through use of NIRS during the FTT, motor retardation in depression would generate a distinct PFC activation pattern, allowing for differentiation between patients with MDD and healthy controls (HCs). METHODS: Thirty-five patients with MDD and thirty-nine HCs underwent NIRS evaluation during performance of the FTT. The FTT included both left-finger tapping and right-finger tapping performed by a computer screen. Each participant was assessed using a 45-channel NIRS and various clinical scales. FINDINGS: During the left-FTT, the left orbitofrontal cortex (OFC) showed higher oxy-hemoglobin (Oxy-Hb) activation in the MDD group when compared to the HCs. During the right-FTT, the right dorsolateral prefrontal cortex (DLPFC) demonstrated lower Oxy-Hb activation, and the dorsomedial prefrontal cortex (DMPFC) showed higher Oxy-Hb activation in the MDD group versus the HC group. CONCLUSION: Our results demonstrated different activation patterns of the PFC between the MDD and HC groups, using FTT as a motor performance task. In particular, the OFC, the DLPFC and the DMPFC areas hold promise as new useful sites for such differentiation in future investigations.

Mutations in TAF8 cause a neurodegenerative disorder.

TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein-associated factors (TAFs). Transcription factor II D is the first general transcription factor recruited at promoters to assemble the RNA polymerase II preinitiation complex. So far disorders related to variants in 5 of the 13 subunits of human transcription factor II D have been described. Recently, a child with a homozygous c.781-1G>A mutation in TAF8 has been reported. Here we describe seven further patients with mutations in TAF8 and thereby confirm the TAF8 related disorder. In two sibling patients, we identified two novel compound heterozygous TAF8 splice site mutations, c.45+4A > G and c.489G>A, which cause aberrant splicing as well as reduced expression and mislocalization of TAF8. In five further patients, the previously described c.781-1G > A mutation was present on both alleles. The clinical phenotype associated with the different TAF8 mutations is characterized by severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Cerebral imaging showed hypomyelination, a thin corpus callosum and brain atrophy. Moreover, repeated imaging in the sibling pair demonstrated progressive cerebral and cerebellar atrophy. Consistently, reduced N-acetylaspartate, a marker of neuronal viability, was observed on magnetic resonance spectroscopy. Further review of the literature shows that mutations causing a reduced expression of transcription factor II D subunits have an overlapping phenotype of microcephaly, developmental delay and intellectual disability. Although transcription factor II D plays an important role in RNA polymerase II transcription in all cells and tissues, the symptoms associated with such defects are almost exclusively neurological. This might indicate a specific vulnerability of neuronal tissue to widespread deregulation of gene expression as also seen in Rett syndrome or Cornelia de Lange syndrome.

Depression and Psychosis Risk Shared Vulnerability for Motor Signs Across Development, Symptom Dimensions, and Familial Risk.

BACKGROUND: Motor abnormalities are strong transdiagnostic indicators of psychopathology risk that reflect emerging neural network abnormalities. Indeed, motor signs, such as motor slowing and agitation, are widely recognized as core features of both psychosis and depression. However, it is unclear whether these reflect shared or distinct etiology. METHODS: A sample of 11 878 adolescents completed self-reported clinical measures of rated psychotic-like experiences (PLEs) and depression. Familial risk for psychopathology and the presence of motor signs were drawn from parental reports, including developmental motor delays (eg, sitting, walking), and adolescent motor signs (eg, dyscoordination, psychomotor retardation, and psychomotor agitation). Finally, motor network connectivity in theoretically relevant networks (cortico-striatal, cortico-thalamic, and cortico-cerebellar) were related to symptoms and familial risk for psychopathology. RESULTS: Developmental motor delays related to increased PLEs, increased depression symptoms, and greater familial risk. Familial risk for both PLEs and depression showed higher rates of developmental motor delays than all other groups. Adolescent motor signs, however, showed unique patterns of relationships to symptoms and familial risk such that dyscoordination reflected risk for PLEs, both psychomotor agitation and retardation reflected depression risk, and psychomotor agitation reflected transdiagnostic risk. Cortico-striatal connectivity was related to depression and PLEs, but cortico-cerebellar connectivity was linked to PLEs only. CONCLUSIONS: Motor signs may be a transdiagnostic marker of vulnerability for psychopathology. Early developmental motor delays could belie pluripotent, familial risk features. Unique items, eg, dyscoordination specifically related to PLEs, possibly reflecting processes inherent in distinct emerging forms of psychopathology.

Actigraphically measured psychomotor slowing in depression: systematic review and meta-analysis.

Psychomotor slowing is a key feature of depressive disorders. Despite its great clinical importance, the pathophysiology and prevalence across different diagnoses and mood states are still poorly understood. Actigraphy allows unbiased, objective, and naturalistic assessment of physical activity as a marker of psychomotor slowing. Yet, the true effect-sizes remain unclear as recent, large systematic reviews are missing. We conducted a novel meta-analysis on actigraphically measured slowing in depression with strict inclusion and exclusion criteria for diagnosis ascertainment and sample duplications. Medline/PubMed and Web-of-Science were searched with terms combining mood-keywords and actigraphy-keywords until September 2021. Original research measuring actigraphy for ⩾24 h in at least two groups of depressed, remitted, or healthy participants and applying operationalized diagnosis was included. Studies in somatically ill patients, N < 10 participants/group, and studies using consumer-devices were excluded. Activity-levels between groups were compared using random-effects models with standardized-mean-differences and several moderators were examined. In total, 34 studies (n = 1804 patients) were included. Patients had lower activity than controls [standardized mean difference (s.m.d.) = -0.78, 95% confidence interval (CI) -0.99 to -0.57]. Compared to controls, patients with unipolar and bipolar disorder had lower activity than controls whether in depressed (unipolar: s.m.d. = -0.82, 95% CI -1.07 to -0.56; bipolar: s.m.d. = -0.94, 95% CI -1.41 to -0.46), or remitted/euthymic mood (unipolar: s.m.d. = -0.28, 95% CI -0.56 to 0.0; bipolar: s.m.d. = -0.92, 95% CI -1.36 to -0.47). None of the examined moderators had any significant effect. To date, this is the largest meta-analysis on actigraphically measured slowing in mood disorders. They are associated with lower activity, even in the remitted/euthymic mood-state. Studying objective motor behavior via actigraphy holds promise for informing screening and staging of affective disorders.

A case of brain-lung-thyroid syndrome. / 脑-肺-ç”²çŠ¶è ºç»¼åˆå¾1例.

Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in NKX2-1 gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.