Josephine Elia

• Nemours Children’s Health System

The COVID-19 pandemic has been associated with increased neuropsychiatric conditions in children and youths, with evidence suggesting that SARS-CoV-2 infection may contribute additional risks beyond pandemic stressors. This study aimed to assess the full spectrum of neuropsychiatric conditions in COVID-19 positive children (ages 5–12) and youths (a...

The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the ge...

Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry, using SNP and CGH array datasets. We observe an average CNV burden of ~650 kb, identifying a total...

Background Attention Deficit Hyperactivity Disorder (ADHD) is one of the most common and most heritable childhood-onset neuropsychiatric disorders, characterized by multifaceted genetics. To date, genetic studies of ADHD focused on additive effects only, explaining just a fraction of its heritability. Thus, we aimed at examining parent of origin ef...

Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, m...

Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, m...

Disorders of behavior represent some of the most common and disabling diseases affecting humankind; however, despite their worldwide distribution, genetic influences on these illnesses are often overlooked by families and mental health professionals. Psychiatric genetics is a rapidly advancing field, elucidating the varied roles of specific genes a...

BACKGROUND: This study describes the relationship of irritable mood (IRR) with affective disorders in youths with attention deficit hyperactivity disorder (ADHD). METHODS: Five hundred ADHD subjects were assessed with the childhood version of the Schedule for Affective Disorder & Schizophrenia. Subjects were in a genetic ADHD protocol and limited t...

Attention deficit, hyperactivity disorder (ADHD) is familial and highly heritable. Several candidate genes involved in neurotransmission have been identified, however these confer minimal risk, suggesting that for the most part, ADHD is not caused by single common genetic variants. Advances in genotyping enabling investigation at the level of the g...

Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors followed up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD etiology. The authors performed...

Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohor...

Neuropsychiatric comorbidity in ADHD is frequent, impairing and poorly understood. In this report, characteristics of comorbid and comorbid-free ADHD subjects are investigated in an attempt to identify differences that could potentially advance our understanding of risk factors. In a clinically-referred ADHD cohort of 449 youths (ages 6-18), age, g...

Epigenetics is the field of research that examines alterations in gene expression caused by mechanisms other than changes in DNA sequence. ADHD is highly heritable; however, epigenetics are considered relevant in potentially explaining the variance not accounted for by genetic influence. In this chapter, some of the well-known processes of epigenet...

Exome sequencing has identified the causes of several Mendelian diseases, although it has rarely been used in a clinical setting to diagnose the genetic cause of an idiopathic disorder in a single patient. We performed exome sequencing on a pedigree with several members affected with attention deficit/hyperactivity disorder (ADHD), in an effort to...

The methylphenidate transdermal system (MTS) provides a novel method of delivery for methylphenidate, a well-studied and effective medication for attention-deficit/hyperactivity disorder. The MTS achieves two major goals. First, the delivery system allows for administration throughout the day with a single patch, thus improving adherence. Second, i...

To better understand the familial transmission of attention deficit hyperactivity disorder (ADHD), a highly heritable disorder, the effects of paternal and maternal ADHD status on probands' ADHD symptoms and subtypes were investigated. In 323 trios with ADHD, data from a structured interview and a self-report scale (score of >21) were used to deter...

Attention deficit/hyperactivity disorder (ADHD) is a common psychiatric disorder influenced by genetic factors. Several chromosomal regions with potential linkage and candidate genes associations have been reported, but findings are often inconsistent and non-replicated. The few genome-wide association studies (GWAS) carried out so far differ for s...

Although twin and family studies have shown attention-deficit/hyperactivity disorder (ADHD) to be highly heritable, genetic variants influencing the trait at a genome-wide significant level have yet to be identified. As prior genome-wide association studies (GWAS) have not yielded significant results, we conducted a meta-analysis of existing studie...

The effective medications currently marketed for attention-deficit hyperactivity disorder (ADHD) have central and peripheral catecholaminergic effects that have been shown to result in statistically significant increases in heart rate and blood pressure. The impact of these medications on serious cardiovascular events in healthy children is unknown...

Neuropsychiatric disorders affecting children, such as attention deficit, hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), schizophrenia, and autism are considered familial with estimated heritability rates of 75, 78, 84, and 93%, respectively (Tsuang, Glatt, & Faraone, 2006), suggesting that genes confer the major risk susceptib...

ADHD (Attention Deficit Hyperactivity Disorder) has a complex, heterogeneous phenotype only partially captured by Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. In this report, latent class analyses (LCA) are used to identify ADHD phenotypes using K-SADS-IVR (Schedule for Affective Disorders & Schizophrenia for School Age...

We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study using a uniform array platform and computational process. We hav...

Attention-deficit/hyperactivity disorder (ADHD) and enuresis co-occur at a higher rate than expected; the cause for this is unclear. Diagnostic and demographic variables were compared in 344 children ages 6 to 12 years, with and without enuresis, recruited in an ADHD genetic study. Sleep variables were investigated in a subgroup of 44 enuretic chil...

Attention-deficit hyperactivity disorder (ADHD) is a highly heritable, common developmental disorder. Although a few confirmed associations have emerged from candidate gene studies, these have shown the same limitations that have become evident in the study of other complex diseases, often with inconsistent and nonreplicated results across differen...

342 Caucasian subjects with attention deficit/hyperactivity disorder (ADHD) were recruited from pediatric and behavioral health clinics for a genetic study. Concurrent comorbidity was assessed to characterize the clinical profile of this cohort. Subjects 6 to 18 years were diagnosed with the Schedule for Affective Disorders & Schizophrenia for Scho...

Over the past decade, concerns have been raised regarding the safety of a variety of psychotropic medications in children and adolescents, the appropriate selection of patients for therapy, and the indications for cardiovascular monitoring. In 1999, concerns over potential cardiovascular effects of psychotropic drugs, especially tricyclic antidepre...

This review of depressive symptoms in pediatric cancer patients describes the challenge of recognizing depression in this group, prevalence, risk factors, and treatment, primarily with the selective serotonin reuptake inhibitors (SSRIs). Pediatric oncologists prescribe SSRIs, but there is limited data regarding their use in this setting. Adverse ef...

Attention-deficit/hyperactivity disorder (ADHD) is highly heritable. Confirmed association has been reported for several candidate genes, including DAT1, DRD4, SNAP-25, DRD5, 5HTT, HTR1B, and DBH; however, these confer relatively small risk. Family-based linkage studies have identified a number of chromosomal regions containing potential ADHD predi...

This is a report of an 11-year-old, prepubertal boy with acute-onset urinary urgency and frequency, obsessions and compulsions related to urination, severe mood lability, inattention, impulsivity, hyperactivity, and intermittent periods of immobilization. Fever, cough, otitis, and sinusitis preceded neuropsychiatric symptoms. Antistreptolysin O and...

Neuropsychiatric lupus can be difficult to diagnose, and little prospective data exists to help direct management. In this case report we describe the acute onset of symptoms of depression, mania, and psychosis and their complete resolution 48 h following a 5-day treatment course of intravenous immunoglobulin (IVIG) in a 20-year-old woman with syst...

Pharmacotherapy, one of the effective modalities of treatment for attention deficit/hyperactivity disorder (ADHD), was discovered serendipitously and, until recently, consisted primarily of short-acting methylphenidate and dextroamphetamine compounds. The US Food and Drug Administration's (FDA) approval of Concerta in 2000 followed by approval of a...

Discusses the prevalence and genetic basis of attention deficit hyperactive disorder and reviews in detail its course and various treatment options including use of stimulant drugs and their adverse effects, antidepressant drugs, alpha-adrenergic agonist drugs, psychosocial interventions as well as other nondrug treatments. It is concluded that met...

Central dopaminergic activity has been assumed to play a role in the efficacy of stimulant drugs in attention deficit/ hyperactivity disorder (ADHD), although supporting evidence has been scant. This study examined baseline cerebrospinal fluid (CSF) of boys with ADHD in relation to response to three different stimulant drugs. Forty five boys with D...

The definition of aggression, acknowledged as an important parameter of childhood psychopathology, is poorly and inconsistently operationalized. This study examined the convergence of six measures of aggression in a group of 43 children and adolescents with Disruptive Behavior Disorders and assessed whether severity physical aggression toward human...

Cerebrospinal fluid (CSF), plasma, and urinary monoamine metabolites were determined for 29 boys, aged 6–12, with attention-deficit hyperactivity disorder (ADHD). Levels of CSF 5-hydroxyindoleacetic acid (5-HIAA), homovanillic acid (HVA), and 3-methoxy-4-hydroxyphenylglycol (MHPG), the metabolites of serotonin, dopamine, and norepinephrine, respect...

Responds to a letter by J. S. Werry (see record 1994-42410-001) noting that the dilemma is how to address the hypothesis that desipramine may be cardiotoxic so that antidepressants will be used judiciously in youths. The authors stress the importance of reporting adverse effects in youths taking antidepressants and suggest that a proper epidemiolo...

Abstract Daily academic classroom performance was recorded in a day hospital school using a commonly employed reading and math series as part of an 11-week double-blind, placebo controlled, crossover comparison of dextroamphetamine (d-AMPH) and methylphenidate (MPH) in 33 hyperactive boys. Students attempted more math and reading tasks while on eit...

The response to stimulant drugs of 48 boys with attention deficit/hyperactivity disorder was measured following dextroamphetamine, methylphenidate, and placebo in a double-blind crossover study. To distinguish lack of behavioral improvement from adverse drug effects, a day hospital setting and a wide dose range were used. Both drugs were highly and...

The occurrence of abnormal movements or perseverative/compulsive behaviors was noted in 34 (76%) of a group of 45 hyperactive boys during a double-blind crossover treatment trial of methylphenidate and dextroamphetamine given in a wide range of doses. These adverse effects were often subtle and transient, and they usually occurred only on one drug....