Search Results (38)

Background/Objectives: Surgical treatment is generally recommended for adolescent idiopathic scoliosis (AIS) when the Cobb angle exceeds 50 degrees even after skeletal maturity or 40 degrees with remaining growth potential. However, limited evidence exists regarding the natural history of curves between 40 and 50 degrees during the late stage of skeletal growth. This study aimed to evaluate the curve progression in AIS patients with a curve between 40 and 50 degrees at Risser stage IV or V. Methods: The inclusion criteria were as follows: (1) AIS patients at the late stage of skeletal growth (Risser IV or V) and a (2) curve between 40 and 50 degrees, with a minimum follow-up of 5 years. Sex, age, the magnitude of the curve, the location of the apex, Risser stage, height, and weight were measured at the baseline and the final follow-up. Curve progression was defined as an increase in the Cobb angle of ≥5 degrees. Patients were also categorized based on whether their final Cobb angle was <50 or ≥50 degrees to evaluate additional risk factors. Results: A total of 97 patients were included, with a mean follow-up of 97 months. Their mean age was 14.6 years at the baseline and 22.6 years at the final follow-up. The mean Cobb angle increased from 42.6 to 45.1 degrees, with a mean change of 2.7 degrees and an annual progression rate of 0.35 degrees. Curve progression was observed in 38 patients (39.2%), and 24 patients (24.7%) reached a final Cobb angle ≥ 50 degrees. Younger age (p = 0.004) and Risser stage IV (p = 0.014) were significantly associated with curve progression. In patients with a final Cobb angle ≥ 50 degrees, Risser stage IV (p = 0.050) and a larger baseline curve magnitude (p = 0.045) were also significant risk factors. Conclusions: In AIS patients at the late stage of skeletal growth, 39.2% experienced significant curve progression. A younger age and Risser stage IV were identified as risk factors for curve progression. A larger baseline curve magnitude and Risser stage IV were also associated with a final Cobb angle ≥ 50 degrees. Full article

Lafora progressive myoclonus epilepsy (LD, OMIM#254780, ORPHA:501) is an ultra-rare and severe autosomal recessive neurological disorder that typically manifests in early adolescence. It is characterized by the accumulation of insoluble forms of aberrant glycogen in the brain and peripheral tissues. Given the urgent need for reliable tools to monitor disease progression, we aimed to identify reliable biomarkers in minimally invasive fluids, which could also provide valuable insights into the natural history of the disease. Plasma-EDTA samples from eleven LD patients and healthy controls were analyzed to identify potential biomarkers of LD using a high-throughput assay. The findings were subsequently validated using specific enzyme-linked immunosorbent assays (ELISAs). Eleven cytokines and growth factors were identified to be significantly reduced in LD patient samples compared to healthy controls. Among these, four mediators [platelet-derived growth factor subunit B (PDGF-BB), epidermal growth factor (EGF), brain derived growth factor (BDNF), and macrophage migration inhibitory factor (MIF)] exhibited the greatest fold change between the groups and were further validated. Given the minimally invasive nature of plasma sampling and the straightforward quantification via ELISA assays, these biomarkers hold strong promise for rapid translation to the clinic, potentially enhancing early diagnosis and longitudinal disease monitoring in LD patients. Full article

Background: The growth patterns of children and adolescents are influenced by multiple factors. This study employed structural equation modeling (SEM) to determine the primary factors influencing the growth of Palestinian children and adolescents in the West Bank (WB). Methods: A cross-sectional survey conducted in 2022 in the WB collected data from 1400 households, of which 500 with children aged 5–17 years and were selected for analysis. The survey assessed household food insecurity, socioeconomic status (SES), parental health history, nutritional awareness, food consumption patterns, and nutrient intake. The latent construct “Child Growth” was measured using Body Mass Index-for-age Z-score (BAZ), height-for-age Z-score (HAZ), and Mean Adequacy Ratio (MAR). SEM was employed to examine the interrelations among latent variables and their observed indicators. Results: Mineral intake showed the strongest direct effect on child growth (β = 0.812, p < 0.001), followed by food availability (β = 0.492), vitamin intake (β = 0.481), SES (β = 0.439), and macronutrient intake (β = 0.383). MAR exhibited the highest factor loading as a growth indicator, while HAZ had limited significance, suggesting its chronic nature. SES influenced growth both directly and indirectly through its effects on food availability and dietary intake pathways. Strong correlations between nutritional knowledge and nutrient classes reflect the interrelationship between behavioral and biological determinants. Conclusions: Both structural and immediate nutritional factors influence child growth. In Palestinian youth, mineral intake, food security, and SES have the greatest influence. These findings offer a framework for understanding the growth determinants of Palestinian youth in the WB and support the development of targeted interventions to improve dietary quality and overall nutritional status. Full article

Background/Objectives: Inflammatory bowel diseases (IBDs) comprise a group of chronic idiopathic disorders, including ulcerative colitis (UC), Crohn’s disease (CD), and indeterminate colitis (IC). Complex genetic factors, in addition to environmental triggers, have been shown to play a fundamental role in the pathogenesis of IBD, contributing to disease susceptibility. The transition of adolescents with inflammatory bowel disease (IBD) to adult care represents a significant challenge for patients, their families, and healthcare providers. Approximately 25% of individuals with IBD receive a diagnosis before the age of 16, and this population is at increased risk for adverse clinical outcomes. As a result, the transition of care has garnered substantial attention in the scientific and clinical communities over the past decade. This study aims to analyze a cohort of pediatric Sardinian patients with IBD to assess clinical characteristics at diagnosis and at the time of transition and determine potential correlations between NOD2/CARD15 gene variants and HLA class II with the disease phenotype. Methods: From January 2014 to August 2024, we performed an observational, cross-sectional study that included pediatric patients with IBD enrolled in the only pediatric IBD reference center in Sardinia. Data were obtained from the patients’ medical records and from a questionnaire administered at the inclusion visit. In addition, we genotyped a portion of our cohort for the Leu1007fsinsC (SNP13), Gly908Arg (SNP12), and Arg702Trp (SNP8) variants of the NOD2/CARD15 gene, as well as for HLA-DRB1, -DQA1, and -DQB1 class II genes. The obtained results were compared with pediatric data from the national epidemiological IBD registry and existing literature. Results: Seventy-one IBD patients were enrolled (UC 43, CD 28, M 34, F 37). Median age at diagnosis was 12.2 years (IQR 2–17). After a median disease duration of 5 years (IQR: 1–16), only three UC patients experienced proximal extension of proctitis or left-sided colitis, and no CD patients experienced new localizations of disease. Fifteen patients developed extraintestinal manifestations. No significant difference was found in median diagnostic delay (DD) between UC [4 months (IQR: 1–84)] and CD patients [4.5 months (IQR: 1–48)]. At the transition visit, overall, twenty-nine patients (42%) were exposed to one biologic agent (vs. 3% at baseline; p < 0.02); 3 patients (4%) were exposed to two or more biologic agents. 7% of patients (5/71) underwent surgery. By comparing the distribution of NOD2/CARD15 SNPs between pediatric patients and an adult CD population, we found a significant association between gene allelic variants and pediatric onset (p = 0.00048). Our study also revealed a statistically significant association between Sardinian pediatric patients carrying NOD2/CARD15 mutations and early-onset CD (p < 0.009492), along with a stenosing phenotype (p < 0.024) and increased surgical risk (p < 0.026). No significant associations were observed between HLA class II alleles and IBD in our population. Conclusions: Our results provide important insights into the clinical and epidemiological features of the pediatric IBD population. In addition, our study highlights the significant role of NOD2/CARD15 gene polymorphisms in pediatric onset CD. These variants influence the age of onset and disease phenotype, characterized by greater severity and a higher risk of surgical intervention in pediatric patients. Full article

Measures of sexual orientation and family functioning are widely used among sexual minority populations. However, data on whether these measures are culturally syntonic and responsive to the needs of a particular population, such as Hispanic sexual minority youth (HSMY), are lacking. Therefore, this study assessed whether HSMY understand measures of sexual orientation and family functioning as intended. Authors conducted individual interviews with five HSMY to evaluate the face validity of a measure of sexual orientation (i.e., Klein Sexual Orientation Grid) and measures of family functioning (i.e., Parent–Adolescent Communication Scale, Parenting Practices Scale, Parental Monitoring of Peers). Data were analyzed using a general inductive approach. For the sexual orientation measure, five themes were identified related to the: (1) clarity of questions, (2) challenging nature of questions, (3) difficulty of responses, (4) suggestions to improve response options, and (5) need for questions to include gender identity. For family functioning, three themes were identified: (1) relevance of the measures to sexual minority youth, (2) the importance of understanding family history and cultural context, and (3) capturing the context of how sexual minority status and disclosure impact family functioning. HSMY had generally positive feedback regarding these measures; however, they also suggested specific changes associated with wording and specificity of the measures to make them more relevant to HSMY’s unique needs. Full article

Background and Clinical Significance: This article explores the complexity of large-cell neuroendocrine carcinoma (LCNEC) by presenting a clinical case involving a 17-year-old admitted for persistent wheezing, with no history of respiratory toxin exposure, a background of atopy, and a suspected diagnosis of bronchial asthma. Given the patient’s age and the nature of the symptoms, the condition was initially diagnosed as asthma, leading to the initiation of maximum inhalation therapy. Case Presentation: Despite proper adherence and correct administration, symptoms persisted, necessitating the use of oral corticosteroids. Imaging revealed an extensive inhomogeneous mass in the cervical esophagus and trachea, along with a similar tumor in the right hilum, prompting bronchoscopy. The diagnosis of LCNEC was confirmed through imaging, histopathological findings, and a detailed immunohistochemical profile. Initially misdiagnosed as adenoid cystic carcinoma, this case highlights the diagnostic challenges and the importance of rigorous evaluation. Conclusions: It emphasizes that recurrent wheezing in adolescents is not always indicative of asthma and requires careful differential diagnosis to uncover less common causes. Full article

It has happened so many times in history: the youth being ignored or sidelined. Such behaviour was and is often motivated by culture. In most cultures, the youth, children, and adolescents are important and loved; however, in society and churches, they are on the sideline, until culture determines their real belonging. The theological departure point of inclusivity has just not been taken yet. In this article will be argued that however natural cultural behaviour might be, to ignore or sideline children and adolescents is to deny our Christian identity as the church of God. In God’s mind, children are included even before they are born. They may be man-and-woman-made, but in fact, they are God-made (Psalm 127 verse 3). They may not even have been part of a man-and-woman-made plan. Coming into being, whether planned or unplanned, does not catch God off-guard. Being is a gift of God, not only to a parent or parents but to the faith community. A theological understanding of our identity as the people of God compels us not and never to ignore or sideline the youth at any stage of life. Full article

Background and Objectives. Suicide represents a primary global health concern, particularly among young individuals aged 15 to 29. Clinicians are actively engaged in efforts to prevent suicide and implement timely interventions. This study aimed to evaluate the effectiveness of self-reported measures in differentiating between adolescents exhibiting suicidal ideation (SI) only and those at risk or with a previous history of suicide attempts (SA). Methods. Seventy-eight adolescent patients (mean age: 15.53 ± 1.49) were classified into two groups using the Columbia Suicide Severity Rating Scale (C-SSRS). Forty-five patients presented with SI but lacked a prior history of SA, while 33 adolescents had a documented history of either concrete or interrupted SA. Notably, all participants in the SA group also reported SI. Participants completed the Multi-Attitude Suicide Tendency Scale (MAST) and the Beck Depression Inventory-Short Form (BDI-SF) to assess protective and risk factors associated with suicidality, as well as perceived depression. Results. Attraction toward life (AL) exhibited a negative correlation with perceived depression in both groups, whereas attraction toward death (AD) was positively correlated with depression in the SA group. In the SI group, scores for repulsion by life (RL) demonstrated a positive correlation with depression. Furthermore, RL scores were significantly higher in the SA group. ROC analysis revealed good accuracy for both assessment tools in differentiating the two groups. Conclusions. The BDI-SF and MAST are effective instruments for identifying adolescents at risk for suicide and implementing tailored preventive and therapeutic interventions. The user-friendly nature and adaptability make those self-report measures useful in various settings, allowing administration without clinician involvement. Full article

Objectives: Achromatopsia (ACHM) is a rare autosomal, recessively inherited disease that is characterized by cone dysfunction, for which several gene therapies are currently on trial. The aim of this study was to find correlations between the morphological macular changes identified using optical coherence tomography (OCT) and some visual functional parameters. Visual acuity (VA), contrast sensitivity (CS), and macular sensitivity obtained by means of microperimetry were assessed. Methods: Adolescents with ACHM underwent macular microperimetry (S-MAIA device) in mesopic condition, macular OCT, best corrected visual acuity (BCVA), low luminance visual acuity (LLVA), near vision acuity (NVA), and CS measurement. Results: Eight patients (15 eyes) with ACHM were analyzed. The mean age was 17 ± 2.7 years, and genetic variants involved the CNGA3 gene (37.5%) and CNGB3 gene (62.5%). OCT staging significantly correlated with microperimetry sensitivity parameters, namely the sensitivity of the central foveal point (p = 0.0286) and of the first and second perifoveal rings (p = 0.0008 and p = 0.0014, respectively). No correlations were found between OCT staging and VA measurements, nor with CS value. Conclusions: Among the extensive evaluated visual function tests, only microperimetry sensitivity showed a correlation with morphological macular changes identified at OCT. Microperimetry sensitivity may thus represent a useful visual function tool in natural ACHM history studies considering the upcoming research on gene therapies for the treatment of ACHM. Full article

Intorduction: Most studies on the progression of childhood-onset multiple sclerosis (MS) involve relatively short follow-up periods, focusing primarily on neurological outcomes and disability progression. The influence of these and other factors on the health-related quality of life is not known. To gain a comprehensive understanding of early-onset MS, it is crucial to evaluate the effects of treatment and the disease on quality of life. Method: This pilot project aimed to evaluate the feasibility of using an online survey tool for long-term follow-up data collection from patients with childhood-onset MS. An anonymized, monocentric, prospective survey was conducted on a convenience cohort of patients treated at a certified centre for neuromuscular diseases in childhood between 2007 and 2019. Results: A total of 27 patients completed the survey. There were no mandatory items, therefore some patients chose not to answer all the questions in the questionnaire. Patients exhibited promising educational achievements, low neurological disease burden, and high resilience. However, anxiety, depression, and pain significantly impacted their perceived health status. Conclusion:This single-centre study has yielded new insights into childhood-onset MS. To enable more accurate comparisons across different centres and countries, it is essential to establish a minimum data set and questionnaire subset for patients with paediatric-onset MS transitioning into adulthood. Full article

A total of 10% of children looked after in residential care in Scotland are aged 5–11. Although there has been a significant amount of information published about the care trajectories of adolescents in residential care, there is limited information about the experiences of younger children. In this paper, we explore the care trajectories and nature of care received by 5–11-year-olds identified as being in need of residential care. Our results show that younger children who enter residential care have significant trauma histories and experience significant levels of emotional and behavioural dysregulation that foster carers find challenging to manage, resulting in recurrent placement breakdowns. Residential care, particularly small-group-sized care that adopts social pedagogical and psychotherapeutic approaches, was considered beneficial for addressing the psychosocial and emotional needs of younger children. Despite these findings, there were concerns about the long-term use of residential care for younger children. Our results highlight that there is a need to improve access to paediatric mental health services for children in family-based placements. There is also a need to invest in better training and support for foster carers looking after children in severe distress. Community-based outreach services and in-home respite services provided by residential care teams are one way this could be achieved. Finally, in order to promote earlier and more timeous use of residential care, there is a need to shift societal views around residential care being a placement of last resort to rather being a place of recovery and healing that should sometimes be used as a placement of first resort. Full article

During the COVID-19 pandemic, there have been multiple reports about an unforeseen surge in adolescents and young adults exhibiting sudden onset functional tic-like behaviors. This phenomenon has been mainly associated with the female gender and occasionally after exposure to social media content featuring similar patterns of functional tic-like behaviors. A significant portion of these individuals have been directed to specialist clinics for movement disorders with initial misdiagnoses of late-onset refractory Tourette syndrome. Distinguishing between rapid onset functional tic-like behaviors and neurodevelopmental tics as part of Tourette syndrome can be challenging; however, the differential diagnosis is facilitated by focusing on specific clinical and demographic factors, which we have explored in a systematic literature review. Compared to neurodevelopmental tics, functional tic-like behaviors typically present with a more abrupt and intense manifestation of symptoms, onset at a later age, higher prevalence among females, inability to suppress tics, coexisting anxiety and depression, and sometimes a history of exposure to social media content portraying tic-like behaviors of a similar nature. This novel manifestation of a functional neurological disorder may thus be viewed as an emerging neuropsychiatric condition potentially triggered/exacerbated by the psychosocial repercussions of the COVID-19 crisis. Full article

This research addresses behavior difficulties and maladaptive coping among African American children and adolescents, and the manner in which these outcomes differ among those with incarcerated mothers. The study also provides an in-depth analysis of the experiences of mothers during and after their incarceration. Earlier investigations suggested that mothers’ victimization and offending, including drug use, are related to children’s emotional and behavioral outcomes. Hence, this research extends an ongoing project by investigating the nature of this relationship using aggregate data on adolescent health outcomes. Generally, most research addresses parental incarceration, typically followed by negative responses of male youth. Less research has evaluated the outcomes of parents’ incarceration on African American children and adolescents specifically. This is particularly true among those with incarcerated mothers. Additionally, examinations have highlighted the role of fathers’ incarceration on negative family functioning, yet we know less about the impact of mothers’ imprisonment and re-entry on children’s behavior. Many of these mothers are single and live in poverty, and their economic situations lead to higher risks of recidivism, deleteriously affecting their children. Moreover, several of them are raising children while experiencing traumatic mental health concerns amid drug usage with minimal support or treatment. For the current project, special attention is also placed on the mothers’ experiences with contact with children, prior history of substance abuse, mental illness, treatment for drug and alcohol problems, and coping with separation from children in an attempt to reveal the subsequent, harmful impact on children’s behavioral adjustment. Full article

Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, and pain. This study aims to report the prevalence and description of pain and how it affects daily life by analyzing a new ad hoc questionnaire. An observational study of patients under 18 years of age with SMA was conducted at two referral centers in Spain. Data were analyzed using a descriptive analysis and a Bayesian ordinal regression model to assess the association with clinical and demographic variables. Fifty-one individuals were included in this study, 43% of whom reported pain with a median duration of 5.2 years and a mean Visual Analogic Scale (VAS) score of 5. Notably, 77% were receiving disease-modifying treatment, with more than 50% receiving analgesic treatment. The Bayesian model showed that functional status, lower limb contractures, and number of visits have a high probability (>90%) of influencing pain. Thus, the prevalence of pain in the SMA population under 18 years is substantial, and its presence could be associated with lower limb contractures, better functional status, and higher RULM (Revised Upper Limb Module) scores. Full article

Cyclic neutropenia is a rare hematological condition characterized by periodic fluctuations in neutrophil counts, with a 21-day periodicity. Clinical presentation varies from mild to severe forms of the disease, with the onset of recurrent fever, painful oral ulcers, recurrent bacterial infections, peritonitis, and septic shock. The availability of granulocyte colony-stimulating factor (G-CSF) has revolutionized the management and natural history of this disease, regulating the proliferation, differentiation, and maturation of the progenitor cells, and reducing the duration of neutropenia. Inflammatory bowel disease (IBD), including Crohn’s disease (CD) and ulcerative colitis (UC), is a group of chronic pathologies that affect the gastrointestinal tract. The onset of both diseases may be at a young age (even during childhood or adolescence), and clinical manifestations may lead to misdiagnosis, due to similar characteristics such as recurrent infections, oral ulcers, perianal abscesses, and infertility. Moreover, the two pathologies are rarely associated, with different management and therapeutic options. Here, we describe two case reports of patients who underwent surgery because of diagnosis of complicated CD. After surgery, due to persistent neutropenia, the hematologist consultant confirmed suspicions of cyclic neutropenia, and G-CSF therapy was started with benefits, underlining the crucial importance of proper differential diagnosis. Full article