Disorders In Pediatric Population Research Articles

Autoimmune Hemolytic Anemia in Children: Mayo Clinic Experience.

We studied 35 pediatric patients with autoimmune hemolytic anemia seen at Mayo Clinic from 1994 to 2014. The median age was 10.0 years and 65.7% were males. Most had warm antibodies (80.0%) and some secondary to viral (14.3%) or autoimmune disorders (31.4%). Seven (20.0%) patients presented with Evans syndrome, 3 of whom also had common variable immunodeficiency. The median hemoglobin at diagnosis was 6.1 g/dL and 62.8% patients required red cell transfusions. The severity of anemia was worse among children below 10 years (median 5.5 vs. 7.0 g/dL, P=0.01). Steroid was the initial treatment for 88.5% patients, with overall response rate of 82.7% (68.5% complete, 14.2% partial) and median response duration of 10.7 months (range, 0.2 to 129.7+ mo). After median follow-up of 26.6 months, 8 (22.8%) patients relapsed. Salvage treatments included splenectomy, intravenous immunoglobulin, rituximab, and mycophenolate mofetil. Infectious complications occurred in 9 (25.7%) patients and 1 patient died of cytomegalovirus infection. Four patients had cold agglutinin disease and 3 (75.0%) responded to steroids. Autoimmune hemolytic anemia is a rare disorder in pediatric population and most respond well to steroids regardless of the type of antibody. Infectious complications are common and screening for immunodeficiency is recommended among those with Evans syndrome.

Levetiracetam: an open label study on safety and efficacy in newly diagnosed partial onset seizures as monotherapy

Background: The Common neurological disorder in pediatric population is epilepsy. Despite having many medications and with recent approval of levetiracetam (LEV) as an adjunctive treatment in children, there is a need to evaluate safety and efficacy of this drug in Indian population. The aim was to study the efficacy and tolerability of levetiracetam as monotherapy, in newly diagnosed partial onset seizures. Methods: Newly diagnosed partial seizure patients attending the neurology outpatient department were considered for the study based on the inclusion criteria. After the patients were started on the minimal therapeutic dose of the allocated drug LEV 500 mg twice daily over a period of 2 weeks, if there is no adequate seizure control, the dose of medication was further stepped up. Dose level 2 was taken as 1000 mg twice daily for levetiracetam over next 2 weeks. Dose level 3, 1500 mg twice daily for levetiracetam for the final 2 weeks (Maximum dose tried). After 6 weeks of dose stabilization, all patients had a final evaluation at the end of 6 months to assess for 6 month seizure free period. Results: Out of 37 subjects who had first visit eligibility on screening 5 did not give consent 2 were in exclusion criteria with 30 involved in study three were lost in follow up. Among 28 children in levetiracetam group 17 (62.96%) had seizure control at 6 months with dose level 1 (20 mg/kg/day) itself. 8 patients (25.92%) had control on dose level 2 (30 mg/kg/day). 2 patients (7.40%) had seizure control at maximum dose level 3 (40 mg/kg/day). In 1 patient, seizures were not controlled in spite of maximum dose. This patient was started on alternative drugs. The commonest discomfort faced by the subjects include nausea 14 (51.85 %), drowsiness 11 (40.74%), unsteadiness 6 (27%), diplopia 6 (20%) and headache 6 (20%). Conclusions: Though the present study is an analysis of small population and open labeled, the results are clear levetiracetam as monotherapy is effective in majority of study population at a dose of 20 to 40 mg/kg/day. The cost effectiveness and safety of the drug has also given promising results for its usage among pediatric age group. A study on large group with comparison to existing gold standard drugs with proven efficacy in children like gabapentin, topiramate, oxcarbazepine and lamotrigine can give more information as monotherapy and its use as adjunctive drug.

Magnetic resonance imaging features of hip disorders in an Egyptian pediatric population.

Hip disorders in a pediatric population are a diagnostic challenge. The aim of the study is to assess the role of magnetic resonance imaging (MRI) in the evaluation of non-traumatic hip disorders in a series of Egyptian patients and to review the literature on the most common hip conditions. Seventy two consecutive patients [40 males (55.6%) and 32 females (44.4)] with acute onset of hip complaints unrelated to trauma or falls were recruited. All patients underwent an initial full clinical assessment and blood tests as well as contrast enhanced MRI of both hips. The most common diagnosis in this group of Egyptian patients was transient synovitis in 29 (40.3%) cases, followed by seronegative enthesopathy and arthropathy syndrome in 8 (11.1%), septic arthritis in 10 (13.9%), tuberculous arthritis in 4 (5.6%), sickle-cell disease in 7 (9.7%), complicated with septic arthritis in 3 (4.2%), transient bone marrow edema (BME) in 3 (4.2%), osteomyelitis in 2 (2.8%), osteosarcoma in 2 (2.8%), sciatic nerve injury in 1 (1.4%), leukemia with BME in 1 (1.4%), coxa vara of both hips and L5/S1 facet joint ankylosis in 1 (1.4%), and a benign bone cyst in 1 (1.4%). MRI studies showed hip effusion in a total of 51 patients (70.8%), joint space narrowing in 9 (12.5%), and BME in 15(20.8%). MRI is a sensitive tool for assessing hip disorders in a pediatric population and can play an important role in both diagnosis and management of different hip disorders, irrespective of the underlying pathology.

Association of ABCB1, ABCC5 and xanthine oxidase genetic polymorphisms with methotrexate adverse reactions in Mexican pediatric patients with ALL.

Acute lymphoblastic leukemia (ALL) is one of the most frequent oncological disorders in pediatric populations. To date, the drug of choice for the treatment of ALL is methotrexate, a drug associated with a high risk of adverse reactions (ADRs). The xanthine oxidase (XO) polymorphisms, 1936A>G and 2107A>G, as well as the polymorphic variants derived from ATP-binding cassette transporter gene subfamilies, ABCB1 and ABCC5, of drug resistant codifying genes, are implicated as precursors of drug-related neurologic, hepatic, and renal toxicities. Our aim was to determine whether the mentioned polymorphisms are risk or protective factors for the development of adverse reactions by methotrexate in our pediatric population with ALL. A total of 35 Mexican children from Centro Estatal de Cancerología-Durango, Mexico, with ALL and the previously noted polymorphisms as determined qPCR were studied. At the same time, a 12-month drug monitoring program was conducted in accordance with WHO-PAHO guidelines for pharmacovigilance. The ABCB11936A>G and 2107A>G and ABCC5 3414+434A>C polymorphisms were not associated with methotrexate ADRs. Single nucleotide polymorphisms (SNPs) of ABCB1 1236C>T (OR 0.19, 95% CI: 0.03-0.9, p<0.05) and ABCC5 3933+313T>C (OR 0.12, 95% CI: 0.027-0.58, p<0.05) were associated with methotrexate ADRs. SNPs 1236C>T of ABCB1 and ABCC5 3933+313T>C are not associated with the development of typical ADRs by methotrexate, rather, they showed a protective factor for myelosuppression in the studied sick population.

Prevalence and Audiological Characteristics of Auditory Neuropathy Spectrum Disorder in Pediatric Population: A Retrospective Study

Auditory neuropathy spectrum disorder (ANSD) is a type of hearing disorder which is challenging for assessment and rehabilitation. This disorder has been studied over a decade and prevalence of the disorder is variable. The study aimed at estimating the prevalence and audiological characteristics of ANSD in children. A retrospective study was conducted from the medical records of pediatric patients evaluated at Rajiv Gandhi Government General Hospital and Madras Medical College, Chennai to estimate the prevalence of ANSD. Medical records of 2,624 children evaluated during the period of November 2010 to October 2012 within the age range of 6months to 12years were analyzed. Out of 2,624 pediatric population assessed 217 (8.26%) of them had unilateral or bilateral sensory neural hearing loss with varying degrees. Out of 217 children with sensory neural hearing loss 5.06% (N=11) had ANSD. Audiological characteristics varied among the group. Children with ANSD had varied degree of hearing thresholds from normal to profound hearing impairment. All of them had 'A' type tympanogram with absent stapedial reflexes. DPOAEs or TEOAEs were observed in 54% of population with ANSD. All of them had abnormal auditory brainstem responses (ABR). Replicable cochlear microphonics was observed in 46% of children with ANSD. These results indicate that ANSD is not a rare condition among children and we emphasize the use of objective tests like tympanometry, Stapedial Reflex test, otoacoustic emissions and ABR in routine hearing assessment procedure for all children to identify ANSD.

Idiopathic eruptive macular pigmentation

Idiopathic eruptive macular pigmentation (IEMP) is an uncommon, rather under-reported disease entity of the pediatric age characterized by asymptomatic, brownish hyperpigmented macules involving the neck and trunk with no preceding inflammation or exposure to drug. Here we report this case to increase awareness of this entity among dermatologists, dermatopathologists and pediatricians. A 11-year-old healthy boy presented with brownish-gray to dark, discrete, asymptomatic macules on the face, trunk, neck and limbs of insidious onset. Histopathologic examination showed melanophages, mild perivascular lymphohistiocytic infiltrate in the papillary dermis and papillomatosis. The natural course of the disease is spontaneous remission without treatment, which was so even in our patient. IEMP is a benign entity with an excellent prognosis as it exhibits spontaneous resolution. It falls into the differential diagnoses of asymptomatic hyperpigmentatory disorders in pediatric population. Awareness of the entity leads to avoidance of unnecessary aggressive damaging treatment.

Pierwotna małopłytkowość immunologiczna u dzieci w świetle współczesnych definicji

BackgroundPrimary immune thrombocytopenia (ITP) is one of the most common hematologic disorders in pediatric population. In 2009 the new unified terminology regarding: definition, clinical classification of the disease and response to treatment was proposed. The main study objective was the comparative analysis of clinical aspects of primary ITP in children regarding the contemporary definitions and historical criteria. MethodsData were collected through medical chart review of subjects identified from hospitalization records (Pediatrics, Hematology and Oncology Department) from the period of 2002–2011. ResultsData of 209 subjects were analyzed. According to recent definitions 206/209 patients (98.6%) could be defined. Using the historical criteria 86.12% were classified as acute and 13.88% as chronic ITP. Newly diagnosed primary immune thrombocytopenia was confirmed in 166/206 cases, persistent ITP in 20/206, and chronic ITP in 20/206 of subjects. Depending on applied criteria we noticed significant differences in acute ITP patient number. Regardless of adjusted definitions, the response rates were higher among treated patients (p<0.0001). Historical criteria allowed to recognize lower response rate in patients treated with intravenous immunoglobulins (p=0.009) or steroids (p=0.033). ConclusionsContemporary definitions allow for more adequate categorization on most of the patients with primary immune thrombocytopenia considering the specific clinical aspects and different natural history of primary ITP in children.

The development of TH2 responses from infancy to 4 years of age and atopic sensitization in areas endemic for helminth infections

BackgroundHelminth infections and allergies are associated with TH2 responses. Whereas the development of TH2 responses and allergic disorders in pediatric populations has been examined in affluent countries, no or little data exist from low income regions of the world.The aim of this study is to examine factors influencing the development of TH2 responses of children born in areas endemic for helminth infections and to relate these factors to atopic sensitization at 4 years of age.MethodsData were collected from pregnant mothers on helminth infections, education and socioeconomic status (SES). Total IgE, IL-5 in response to mitogen, and helminth antigens were measured in children at 2, 5, 12, 24 and 48 months of age. Skin prick testing (SPT) and allergen-specific IgE were determined at 4 years of age.ResultsStrong TH2 responses were seen at 5 months of age and increased with time. Although maternal filarial infection was associated with helminth-antigen specific TH2 responses, it was low maternal education or SES but not helminth infection, which was associated with the development of high total IgE and PHA-induced IL-5. At 4 years of age when allergen reactivity was assessed by SPT, the high general TH2 responses did not translate into higher prevalence of SPT. The risk factor for SPT reactivity was low maternal education which decreased the risk of SPT positivity to allergens (adjusted OR, 0.32; 95% CI, 0.12 – 0.87) independently of maternal filarial infection which tended to reduce the child’s risk for being SPT positive (adjusted OR, 0.35; 95% CI, 0.07 – 1.70).ConclusionsIn areas endemic for helminths, potent TH2 responses were seen early in life, but did not translate into a higher SPT reactivity to allergens. Therefore, in many parts of the world TH2 responses in general and IgE in particular cannot be used for diagnosis of allergic diseases.

The State of the Evidence Base for Psychodynamic Psychotherapy for Children and Adolescents

This article reviews outcomes of psychodynamic psychotherapy (PP) for children and adolescents reported in articles identified by a comprehensive review of the literature on treatment evaluations of psychological and medical interventions for mental disorders in pediatric populations. The review identified 48 reports based on 33 studies. While there is evidence of substantial clinical gains associated with PP, in almost all the studies, when contrasted with family-based interventions, PP fares no better and appears to produce outcomes with some delay relative to family-based therapies. Further rigorous evaluations are needed, but evidence to date suggests that the context in which PP is delivered should be extended from the traditional context of individual therapy and parents should be included in the treatment of children.

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This article explores clinicians' perspectives and identifies challenges in effectively interpreting results and communicating with families about CMA. Responses to an online survey were obtained from 40 clinicians who had ordered CMA. Content included practice characteristics and perceptions, and queries about a hypothetical case involving uncertain and incidental findings. Data were analyzed using nonparametric statistical tests. Clinicians' comfort levels differed significantly for explaining uncertain, abnormal, and normal CMA results, with lowest levels for uncertain results. Despite clinical guidelines recommending informed consent, many clinicians did not consider it pertinent to discuss the potential for CMA to reveal information concerning biological parentage or predisposition to late-onset disease, in a hypothetical case. Many non-genetics professionals ordering CMA did not feel equipped to interpret the results for patients, and articulated needs for education and access to genetics professionals. This exploratory study highlights key challenges in the practice of genomic medicine, and identifies needs for education, disseminated practice guidelines, and access to genetics professionals, especially when dealing with uncertain or unexpected findings.

Burden of psychiatric disorders in the pediatric population

In order to estimate the burden of mental disorders in a representative Italian pediatric population, an epidemiological study was performed using three administrative databases: a drug prescription, a hospital discharge form, and an outpatient ambulatory visit database. The population target was 1,616,268 children and adolescents under 18 years living in the Lombardy Region, Italy. A youth was defined as a case if during 2008 he/she received at least one psychotropic drug prescription or was hospitalized for a psychiatric disorder (International Classification of Disease codes 290–319), or attended a child neuropsychiatric outpatient unit for a visit and/or a psychological intervention or rehabilitation at least once. Epileptic children were excluded.In all, 63,550 youths (39.3 per 1000; 95%CI 39.1–39.7‰) were identified as users of health care resources for a putative mental disorder. The prevalence was higher in boys than in girls (47.0‰ versus 31.3‰) and the highest value was recorded in children 8 years old (60.2‰).A total of 59,987 youths (37.1‰) attended a child and adolescent neuropsychiatry service at least once, 3605 (2.2‰) were admitted to hospital, and 2761 (1.7‰) received at least one psychotropic drug prescription, 57% of which did not attend a child neuropsychiatry service. In all, 14,741 youths (23.1% of users) had a disorder that required a high intensity of care (e.g. recurrent prescriptions for drugs and/or ambulatory care).The proportion of youths who received care for mental disorders in the Lombardy Region seems lower than in other countries. However, the fact that many children were prescribed psychotropic drugs without the supervision of a child psychiatrist is a reason for concern.

Prevalence Of ENT Diseases In Children: Hospital Based Study

Background: Nepal is a landlocked and developing country with 34.6% children under 14 years of ageas well a big population under the line of poverty. Socioeconomic status, family type, overcrowding and provision of health care facilities act as risk factors for ENT disorders. There is a lack of data on pediatric ENT disorders from various Nepalese populations. This study was undertaken to determine the hospital prevalence of ENT disorders in pediatric population and their relationship with sociodemographic factors.Objectives:This study was undertaken to determine the hospital prevalence of ENT disorders in pediatric population and their relationship with socio-demographic factors in a tertiary care hospital in Nepal.Methods: This is a prospective analytic study, conducted at Department of ENT, Head & Neck Surgery between January 2010 and December 2010 in the Ear, Nose and Throat (ENT) Department, Gandaki Medical College Charak Hospital, Pokhara, Nepal. All patients aged 16 years or younger presented ear diseases to the ENT clinic of the hospital seen by ENT surgeons were enrolled into the study.Results: Among 1632 children, ENT diseases were found to be more common among male children (60%). The male to female ratio is 1.5:1. Most of the children were living in joint family (64.16%). Diseases of auditory system (57.84%) were the most common group of ENT problems among the pediatric population, followed by pharyngo-esophageal (23.53%) and nasal disorders (18.63%). Most common otologic disorder was ear wax (40.9%). Among problems associated with nose, rhinitis (23.4%) was most common. Pharyngitis was troubling (44.8%) of our study population.Conclusion:Improvement of health education, socioeconomic status and health facilities will be helpful in reducing the prevalence of ENT diseases. A study on the prevalence of the Ear Nose throat and Head and Neck diseases in developing country like Nepal can provide basic data which can be relevant and beneficial to the development of medical ENT curriculum in the regional setup and subsequent medical practice.

Idiopathic Pulmonary Hemosiderosis: A Case Report with Review of Related Literature

Pulmonary hemosiderosis is an uncommon disorder in pediatric population in developing countries. It may affect the lung in an isolated form of Idiopathic Pulmonary Hemosiderosis (IPH) or as a manifestation of systemic disorders. The present patient belonging to Mongolian race presented with history of fever, cough, respiratory distress and previous episode of hemoptysis. The child had anemia, negative tuberculin test and no acid-fast bacilli in sputum and presence of bilateral pulmonary infiltrates in X-ray chest. Sputum examination showed iron-laden macrophages and no secondary cause could be ascertained. The patient responded well to prednisolone treatment alone. Idiopathic pulmonary hemosiderosis can be diagnosed based on the clinical features and sputum examination. Lung biopsy and high resolution CT thorax may not be undertaken in setting where facilities are not available.

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

Adeno-associated virus type 9 (AAV9) is a powerful tool for delivering genes throughout the central nervous system (CNS) following intravenous injection. Preclinical results in pediatric models of spinal muscular atrophy (SMA) and lysosomal storage disorders provide a compelling case for advancing AAV9 to the clinic. An important translational step is to demonstrate efficient CNS targeting in large animals at various ages. In the present study, we tested systemically injected AAV9 in cynomolgus macaques, administered at birth through 3 years of age for targeting CNS and peripheral tissues. We show that AAV9 was efficient at crossing the blood–brain barrier (BBB) at all time points investigated. Transgene expression was detected primarily in glial cells throughout the brain, dorsal root ganglia neurons and motor neurons within the spinal cord, providing confidence for translation to SMA patients. Systemic injection also efficiently targeted skeletal muscle and peripheral organs. To specifically target the CNS, we explored AAV9 delivery to cerebrospinal fluid (CSF). CSF injection efficiently targeted motor neurons, and restricted gene expression to the CNS, providing an alternate delivery route and potentially lower manufacturing requirements for older, larger patients. Our findings support the use of AAV9 for gene transfer to the CNS for disorders in pediatric populations.

Neuroimaging in Developmental Clinical Neuroscienceedited by RumseyJudith M. and Ernst.Monique Cambridge, United Kingdom, Cambridge University Press, 2009, 472pp, $199.99.

Neuroimaging in Developmental Clinical Neuroscienceedited by RumseyJudith M. and Ernst.Monique Cambridge, United Kingdom, Cambridge University Press, 2009, 472pp, $199.99.

The use of antipsychotics in children and adolescents with bipolar disorders

The use of antipsychotics, particularly the atypical antipsychotics, has increased dramatically in child and adolescent populations over the last decade. This class of psychotropics has been used to treat a variety of psychiatric disorders in pediatric populations, including bipolar disorder (BPD). The present clinical guidelines for treating BPD in younger populations closely follow those for managing adult BPD, as reasoning for using the atypicals is many times initially based on the outcomes of adult studies and indications. As in adult populations, metabolic parameters such as body mass index, blood glucose levels and fasting lipid profiles should be routinely monitored throughout the course of treatment. Of the several studies undertaken thus far, it appears that atypical antipsychotics are efficacious in the treatment of pediatric BPD. However, the number of controlled studies demonstrating their efficacy in younger subjects is limited and further investigation is required to evaluate if effectiveness and potential for side effects differ significantly than that for adult populations.

S46.D Sleep disorders in pediatric populations in China

S46.D Sleep disorders in pediatric populations in China

Neuromuscular rehabilitation and electrodiagnosis. 4. Pediatric issues

Kim C-T, Strommen JA, Johns JS, Weiss JM, Weiss LD, Williams FH, Rashbaum IG. Neuromuscular rehabilitation and electrodiagnosis. 4. Pediatric issues. This self-directed learning module highlights the physician’s role in the diagnosis and treatment of neuromuscular disorders in pediatric populations. It is part of the chapter on neuromuscular rehabilitation and electrodiagnosis in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and rehabilitation. This article discusses both clinical and electrodiagnostic features of common neuromuscular disorders in pediatric populations. The diagnostic value of somatosensory evoked potential is reviewed in a case of traumatic spinal cord injury without radiographic abnormality. Therapeutic interventions of progressive muscular dystrophy are discussed, as well as the differential diagnosis of floppy infant syndrome, the most common pediatric electrodiagnostic referral. Overall article objectives (a) To become familiar with electrodiagnosis and rehabilitation for common neuromuscular disorders in the pediatric population, (b) to undrstand electrodiagnostic findings of Guillain-Barré syndrome corresponding to pathophysiology, (c) to become familiar with somatosensory evoked potentials, and (d) to be able to make differential diagnosis of floppy infant syndrome based on clinical findings as well as electrodiagnosis.

Computed tomographic evaluation of cerebral disorder in pediatric population

Computed tomographic evaluation of cerebral disorder in pediatric population