Psychomotor retardation
View article: Neurobiological and Trauma-Driven Pathways to Catatonia in Borderline Personality Disorder
Neurobiological and Trauma-Driven Pathways to Catatonia in Borderline Personality Disorder Open
Acute catatonic compromise in individuals with borderline personality disorder (BPD) represents an underrecognized clinical intersection with significant diagnostic and therapeutic implications. This review integrates neurobiological, trau…
View article: Dual molecular diagnosis due to heterozygous variants in ZMYDN11 and ATP2B1
Dual molecular diagnosis due to heterozygous variants in ZMYDN11 and ATP2B1 Open
We present the case of a 15-year-old patient with mild intellectual disability and behavioural abnormalities. He achieved the milestones of psychomotor development late and had muscular hypotonia in early childhood. He attends a special ne…
View article: Early Intervention in the Recovery of Psychomotor Developmental Disorders in Preterm Infants – A Systematic Review Analysis –
Early Intervention in the Recovery of Psychomotor Developmental Disorders in Preterm Infants – A Systematic Review Analysis – Open
Introduction: Preterm birth remains a major public health issue, being closely associated with a higher risk of psychomotor developmental disorders. Early physiotherapy interventions play a crucial role in supporting motor and cognitive de…
View article: Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss
Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss Open
Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder. It is characterized by the association of early-onset sensorineural hearing loss and typical brain malformations, in contrast with preserved or only mildly affected …
View article: Insomnia and Its Impact on Psychomotor Reactivity, Autonomic Function, and Psychological Well-Being Among Medical Students: A Cross-Sectional Analytical Study
Insomnia and Its Impact on Psychomotor Reactivity, Autonomic Function, and Psychological Well-Being Among Medical Students: A Cross-Sectional Analytical Study Open
View article: SEVERE DEPRESSIVE EPISODE WITH INSOMNIA AND SUICIDAL IDEATION MANAGED WITH MULTIMODAL PHARMACOTHERAPY: A CASE REPORT
SEVERE DEPRESSIVE EPISODE WITH INSOMNIA AND SUICIDAL IDEATION MANAGED WITH MULTIMODAL PHARMACOTHERAPY: A CASE REPORT Open
Background: Severe depression often presents with profound sleep disturbances, psychomotor retardation, and suicidal ideation, requiring a combination of pharmacological and psychotherapeutic interventions. Case Presentation: We report a c…
View article: SEVERE DEPRESSIVE EPISODE WITH INSOMNIA AND SUICIDAL IDEATION MANAGED WITH MULTIMODAL PHARMACOTHERAPY: A CASE REPORT
SEVERE DEPRESSIVE EPISODE WITH INSOMNIA AND SUICIDAL IDEATION MANAGED WITH MULTIMODAL PHARMACOTHERAPY: A CASE REPORT Open
Background: Severe depression often presents with profound sleep disturbances, psychomotor retardation, and suicidal ideation, requiring a combination of pharmacological and psychotherapeutic interventions. Case Presentation: We report a c…
View article: Late Diagnosis of Inattentive ADHD in a School-Aged Child Without Hyperactivity: A Comprehensive Therapeutic Approach
Late Diagnosis of Inattentive ADHD in a School-Aged Child Without Hyperactivity: A Comprehensive Therapeutic Approach Open
Introduction: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition of multifactorial origin, with a strong genetic basis, typically manifesting in childhood and characterized by high clinical heterogeneity. Its…
View article: Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China
Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China Open
Background D-bifunctional protein deficiency (D-BPD) is a rare fatal autosomal recessive peroxisomal disorder caused by biallelic pathogenic mutations in the hydroxysteroid 17-beta dehydrogenase 4 ( HSD17B4 ) gene; it is characterized by h…
View article: MENG-14 VISUAL AND PSYCHIATRIC DISTURBANCES REVEALING MENINGIOMA: ONE TRAIN CAN HIDE ANOTHER, A CASE REPORT
MENG-14 VISUAL AND PSYCHIATRIC DISTURBANCES REVEALING MENINGIOMA: ONE TRAIN CAN HIDE ANOTHER, A CASE REPORT Open
Background visual disturbances and hallucinations may be linked to a meningioma when the tumor exerts pressure on the brain régions involved on vision or visual perception. Objective to report a clinical case of olfactory sulcus meningioma…
View article: MENG-12 VISUAL DISTURBANCES AND MENINGIOMA: ONE TRAIN CAN HIDE ANOTHER: A CASE REPORT
MENG-12 VISUAL DISTURBANCES AND MENINGIOMA: ONE TRAIN CAN HIDE ANOTHER: A CASE REPORT Open
Aim To report a clinical case of olfactory sulcus meningioma. Result Miss E.A.H., 63 years old, with no particular medical history, has been followed for two years for declining visual acuity. She was hospitalized in a psychiatric ward due…
View article: First Reported Case of Concurrent 16p11.2 Duplication and SCN2A R853W Variant in a Patient with Pharmacoresistant Epilepsy and Developmental Delay
First Reported Case of Concurrent 16p11.2 Duplication and SCN2A R853W Variant in a Patient with Pharmacoresistant Epilepsy and Developmental Delay Open
Background: Pathogenic variants in SCN2A, a gene encoding the voltage-gated sodium channel (Nav1.2), contribute to a spectrum of epilepsy and neurodevelopmental disorders. The recurrent 16p11.2 duplication is a copy number variant risk loc…
View article: Molecular cytogenetic characterization of a rare recombinant chromosome 22 caused by a maternal intrachromosomal insertion
Molecular cytogenetic characterization of a rare recombinant chromosome 22 caused by a maternal intrachromosomal insertion Open
The formation of recombinant chromosomes in the offspring of inversion and insertion carriers constitutes a significant challenge in clinical genetics due to the high risk of chromosomal abnormalities in children. Here, we present a clinic…
View article: Treatment-resistant recurrent unipolar and bipolar depression: associative learning abnormalities
Treatment-resistant recurrent unipolar and bipolar depression: associative learning abnormalities Open
Severe and enduring psychiatric illness affects about 3% of the UK population and is associated with significant disability and a substantial reduction in average life expectancy. Two types are treatment-resistant recurrent unipolar depres…
View article: Structural and functional disorders in pediatric patients’ foot
Structural and functional disorders in pediatric patients’ foot Open
Introduction: Foot deformities in pediatric patients comprise a broad group of disorders. They are the result of the interaction of exogenous and endogenous factors that can influence the infant's psychomotor development. Objective: To cha…
View article: Psychomotor clumsiness as a factor affecting the social behavior of children with autism spectrum disorder
Psychomotor clumsiness as a factor affecting the social behavior of children with autism spectrum disorder Open
Introduction: The concern with the psychomotor clumsiness of children with ASD and the assessment of it by teachers is a result of the lack of relevant research, not only in Greece but more generally. That is, there is no research that exa…
View article: Psychomotor clumsiness as a factor affecting the social behavior of children with autism spectrum disorder
Psychomotor clumsiness as a factor affecting the social behavior of children with autism spectrum disorder Open
Introduction: The concern with the psychomotor clumsiness of children with ASD and the assessment of it by teachers is a result of the lack of relevant research, not only in Greece but more generally. That is, there is no research that exa…
View article: Abnormal temporal prediction relates to psychomotor retardation in major depressive disorder
Abnormal temporal prediction relates to psychomotor retardation in major depressive disorder Open
Major depressive disorder (MDD) exhibits psychomotor retardation which concerns abnormal slowness of both thoughts and movements. In the current study, we investigated whether such psychomotor disturbance also disrupts the MDD subjects’ ab…
View article: Efficacy analysis of psychomotor impairment using virtual reality-based exergames for rehabilitation of congenital hemiplegic cerebral palsy children
Efficacy analysis of psychomotor impairment using virtual reality-based exergames for rehabilitation of congenital hemiplegic cerebral palsy children Open
View article: Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation
Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation Open
View article: Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments Open
Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity. From a clinical standpoint, Leigh syndrome show…
View article: Sensori- and psychomotor abnormalities, psychopathological symptoms and functionality in schizophrenia-spectrum disorders: a network analytic approach
Sensori- and psychomotor abnormalities, psychopathological symptoms and functionality in schizophrenia-spectrum disorders: a network analytic approach Open
Sensori- and psychomotor abnormalities are an inherent part of schizophrenia-spectrum disorders (SSD) pathophysiology and linked to psychopathological symptoms as well as cognitive and global functioning. However, how these different sympt…
View article: Decoding neural circuit dysregulation in bipolar disorder: Toward an advanced paradigm for multidimensional cognitive, emotional, and psychomotor treatment
Decoding neural circuit dysregulation in bipolar disorder: Toward an advanced paradigm for multidimensional cognitive, emotional, and psychomotor treatment Open
Bipolar disorder (BD) is characterized by a complex constellation of emotional, cognitive, and psychomotor disturbances, each deeply intertwined with underlying dysfunctions in large-scale brain networks and neurotransmitter systems. This …
View article: Quando la collaborazione fa la differenza. La sinergia tra pediatria territoriale e specialistica nella diagnosi e nella gestione delle malattie rare permette cure personalizzate. Un caso da ricordare: la sindrome di Aicardi-Goutières
Quando la collaborazione fa la differenza. La sinergia tra pediatria territoriale e specialistica nella diagnosi e nella gestione delle malattie rare permette cure personalizzate. Un caso da ricordare: la sindrome di Aicardi-Goutières Open
S., 6 months old, comes to our attention for the first time at the primary care outpatient clinic, presenting from 2 months of age with a clinical picture of cervico-axial hypotonia with nystagmoid movements on the horizontal plane, startl…
View article: Why is electroconvulsive therapy for depression more effective in older age? A causal mediation analysis
Why is electroconvulsive therapy for depression more effective in older age? A causal mediation analysis Open
Background Older people with depression exhibit better response to electroconvulsive therapy (ECT). We aimed to measure the total effect of age on ECT response and investigate whether this effect is mediated by psychotic features, psychomo…
View article: <i>CSNK2B</i> Mutation: A Rare Cause of IGHD
<i>CSNK2B</i> Mutation: A Rare Cause of IGHD Open
Objective Poirier‐Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor develo…
View article: Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis Open
Introduction Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in NALCN …
View article: Brain‐derived neurotrophic factor as a promising neuromarker which could predict psychomotor developmental impairment in children with unrepaired congenital heart defects
Brain‐derived neurotrophic factor as a promising neuromarker which could predict psychomotor developmental impairment in children with unrepaired congenital heart defects Open
Introduction The aim of the study was to assess the predicting value of neuromarkers for psychomotor performances of congenital heart defect (CHD) patients before surgery, as until now the researchers only evaluated neuromarkers after the …
View article: Deciphering white matter microstructural alterations in catatonia according to ICD-11: replication and machine learning analysis
Deciphering white matter microstructural alterations in catatonia according to ICD-11: replication and machine learning analysis Open
View article: First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants
First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants Open
Here, we report a case with concomitant variants: a novel homozygous HERC1 gene variant and a novel heterozygous PMP22 duplication. The 2-year-old male presented with seizures, developmental delay, macrocephaly, hypotonia, unilateral hyper…