Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.

OBJECTIVES: The MetabQoL 1.0 is the first disease-specific health related quality of life (HrQoL) questionnaire for patients with intoxication-type inherited metabolic disorders. Our aim was to assess the validity and reliability of the MetabQoL 1.0, and to investigate neuropsychiatric burden in our patient population. METHODS: Data from 29 patients followed at a single center, aged between 8 and 18 years with the diagnosis of methylmalonic acidemia (MMA), propionic acidemia (PA) or isovaleric acidemia (IVA), and their parents were included. The Pediatric Quality of Life Inventory (PedsQoL) was used to evaluate the validity and reliability of MetabQoL 1.0. RESULTS: The MetabQoL 1.0 was shown to be valid and reliable (Cronbach's alpha: 0.64-0.9). Fourteen out of the 22 patients (63.6%) formally evaluated had neurological findings. Of note, 17 out of 20 patients (85%) had a psychiatric disorder when evaluated formally by a child and adolescent psychiatrist. The median mental scores of the MetabQoL 1.0 proxy report were significantly higher than those of the self report (p = 0.023). Patients with neonatal-onset disease had higher MetabQoL 1.0 proxy physical (p = 0.008), mental (p = 0.042), total scores (p = 0.022); and self report social (p = 0.007) and total scores (p = 0.043) than those with later onset disease. CONCLUSIONS: This study continues to prove that the MetabQoL 1.0 is an effective tool to measure what matters in intoxication-type inherited metabolic disorders. Our results highlight the importance of clinical assessment complemented by patient reported outcomes which further expands the evaluation toolbox of inherited metabolic diseases.

Factors affecting the postoperative quality of life and psychological well-being in pediatric urology patients.

BACKGROUND: While most studies in pediatric urology investigate the clinical results, very few explore the relationship between surgery and quality of life and psychosocial well-being in pediatric urology practice. The determination of the effects of the surgical method on the quality of life (QoL) is of increasing importance. INTRODUCTION: This study investigated the effect of surgery type on the postoperative QoL and psychological well-being of pediatric urological surgery patients. METHODS: A total of 151 children and adolescents (4-18 years old) undergoing elective urological surgery between September 2020 and July 2021 were evaluated preoperatively; those who currently had psychiatric disorders were excluded. Of the 98 patients undergoing subsequent detailed preoperative assessment using standardized instruments to evaluate QoL and depression and anxiety symptom levels, only 63 could be re-evaluated postoperatively at a 6-month follow-up. Additionally, preoperative parental psychiatric symptom load was assessed using standardized self-report forms. RESULTS: The patients were classified into two categories for analysis-open versus endourological surgery and major versus minor surgery. In the latter category, there was a significant increase in the postoperative QoL in children undergoing minor urological surgery (p = 0.037). Furthermore, the table depicted the regression analysis indicating the predictors for lower postoperative QoL. Those predictors were higher parental preoperative psychiatric symptom load, a greater number of previous surgeries, and female gender (p < 0.001, adjusted R2 = 0.304). CONCLUSION: Postoperative QoL of children/adolescents undergoing pediatric urology surgery is affected more by the patient's preoperative medical condition and the psychological status of the patient's parents, rather than the surgical method opted for.

[Reliability and Validity of the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version, DSM-5 November 2016-Turkish Adaptation (K-SADS-PL-DSM-5-T)]. / Okul Çagi Çocuklari için Duygulanim Bozukluklari ve Sizofreni Görüsme Çizelgesi–Simdi ve Yasam Boyu Sekli–DSM–5 Kasim 2016 –Türkçe Uyarlamasinin (ÇDSG–SY–DSM–5–T) Geçerlik ve Güvenirligi.

OBJECTIVE: The aim of this study was to evaluate the reliability and validity of the Schedule for Affective Disorders and Schizophrenia for School-Age ChildrenPresent and Lifetime Version, DSM-5 November 2016 -Turkish Adaptation (K-SADS-PL-DSM-5-T).  METHOD: A total of 150 children and adolescents between 6 and 17 years of age were assessed with K-SADS-PL-DSM-5-T. The degree of agreement between the DSM-5 criteria diagnoses and the K-SADS-PL-DSM-5-T diagnoses were considered as the measure of consensus validity. In addition, concurrent validity was examined by analyzing the correlation between the diagnoses on K-SADS-PL-DSM-5-T and relevant scales. Interrater reliabilities were assessed on randomly selected 20 participants. Likewise, randomly selected 20 other participants were interviewed with K-SADS-PL-DSM-5-T three weeks after the first interview to evaluate test-retest reliability.  RESULTS: The consistency of diagnoses was almost perfect for eating disorders, selective mutism and autism spectrum disorder (κ=0.92-1.0), substantial for elimination disorders, obsessive-compulsive disorder, oppositional defiant disorder, generalized anxiety disorder, social anxiety disorder, depressive disorders, disruptive mood dysregulation disorder and attention deficit hyperactivity disorder (κ=0.67-0.80). Interrater reliability was perfect for selective mutism (κ=1.0), substantial for oppositional defiant disorder, disruptive mood dysregulation disorder, attention deficit hyperactivity disorder, depressive disorders and social anxiety disorder (κ=0.63-0.73). Test-retest reliability was almost perfect for autism spectrum disorder (κ=0.82), substantial for attention deficit hyperactivity disorder, oppositional defiant disorder, disruptive mood dysregulation disorder, depressive disorders and generalized anxiety disorder (κ=0.62-0.78).  CONCLUSION: The results of this study show that the K-SADS-PL-DSM-5-T is an effective instrument for diagnosing major childhood psychiatric disorders including selective mutism, disruptive mood dysregulation disorder and autism spectrum disorder which have recently been added to the schedule.

[Motor Proficiency in Children with Attention Deficit Hyperactivity Disorder: Associations with Cognitive Skills and Symptom Severity]. / Dikkat Eksikligi Hiperaktivite Bozuklugu Olan Çocuklarda Motor Yeterlilik: Bilissel Beceriler ve Belirti Siddeti ile Iliskisi.

OBJECTIVES: Of children with Attention Deficit Hyperactivity Disorder (ADHD), 45-70% have motor skill problems, which can adversely affect social competence, peer relations, and academic skills. The aim of this study is to assess motor skills in school-aged children with ADHD, and to elucidate if there are any relationships between ADHD symptoms and cognitive function. METHOD: Included in this study were 58 children (38 ADHD, 20 controls) between 8-11 years of age. Children were diagnosed with ADHD via the Schedule for Affective Disorders and Schizophrenia for School-Aged Children Present and Lifetime Version. The parents were asked to fill out the Conner's' Parent Rating Scale - Revised Short Turkish Form to determine the symptom domains and the symptom severity. The Wechsler Children's Intelligence Scale-IV was used to assess cognitive skills, and the Bruininks -Oseretsky Motor Proficiency Test was used to assess motor skills. RESULTS: Children with ADHD had impaired performance in many motor skill areas compared to the controls. Impairments in fine motor skills were correlated with problems in attention, working memory, and processing speed. In the ADHD group, age was not correlated with motor skills enhancement. CONCLUSION: The multistage clinical evaluation of ADHD should include screening for problems in motor skills. If deficiencies are found, the child should be clinically evaluated for motor proficiency and, if necessary, should be referred for appropriate objective assessment and intervention programs.

Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants.

Cataplexy is a brief episode of bilateral loss of muscle tone with intact consciousness, triggered by a variety of strong emotions such as anger, laugh, humor or surprise and it is considered to represent the physiologic atonia of rapid eye movement sleep. On the other hand, Niemann-Pick type C is a neurodegenerative lysosomal storage disease, characterized by the accumulation of cholesterol and glycosphingolipids. Cataplexy is a relatively specific and common neurologic sign seen in almost 50% of all patients with Niemann-Pick type C. The aim of this report is to demonstrate the successful treatment of cataplexy with the use of a tricyclic antidepressant imipiramine, in two patients between the ages 6-9, with mild to moderate mental retardation, molecularly diagnosed as Niemann-Pick type C 1 and currently under miglustat treatment and to discuss the possible mechanisms of drug action in the light of cataplexy and Niemann-Pick type C pathophysiology.

Remitting brief psychotic disorder in a 15-year-old male.

We present a case of remitting brief psychotic disorder in a 15 year old male, who had 4 phenomenologically alike episodes consisting of the following symptoms; sudden onset, unstructured delusions, hallucinations, clouding of consciousness, and a rapid return to his premorbid level of functioning. No evidence was found indicating a metabolic disease or a neurological disorder. The diagnostic criteria of brief psychotic disorder were fulfilled, although the clinical picture could not be described adequately by using only DSM-IV criteria. Remitting brief psychosis and the validity of different diagnostic systems are discussed.