Publications by authors named "Marni Axelrad"

Objectives: Research and clinical expertise have emphasized the mental health needs of parents and caregivers of medically complex children. Evidence-based interventions are available for adult mental health, including those designed specifically for caregivers caring for children with a variety of health-care needs. This paper describes practical and legal considerations of 3 possible pathways for psychologists to address the needs of caregivers within pediatric hospital settings.

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Preschoolers commonly experience symptoms of ADHD and disruptive behavior problems. Behavioral parent management training (PMT) is an evidence-based intervention for addressing both ADHD and disruptive behaviors in this population; however, many PMT programs are burdensome in length and have limited data regarding long-term effectiveness for ADHD specific outcomes. This study examined outcomes up to 1 year following completion of a brief behavioral intervention (M = 6.

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Article Synopsis
  • * The seventh International RASopathies Symposium focused on sharing research findings to foster new discoveries and potential therapies for RASopathies.
  • * This year's meeting marked a significant advance as some research is now being used clinically, specifically through the use of Ras/MAPK inhibitors for treating patients.
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While challenges related to health care utilization among transgender individuals have been discussed, studies examining health services under Medicaid are limited. A retrospective review was performed on all patients who presented with Gender Dysphoria from 2013-2018 to one Medicaid managed program. Utilization rates of distinct services and interventions were analyzed.

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It has been estimated that 10-15% of people with Robinow syndrome (RS) show delayed development, but no studies have formally assessed developmental domains. The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening.

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Article Synopsis
  • The paper discusses the use of hormone treatment for disorders of sex development (DSD) and highlights the complexities involved in making treatment decisions.
  • It argues that the effects of hormone therapy may require informed consent processes similar to those for surgical interventions.
  • The authors stress the importance of creating standardized treatment algorithms to improve care for patients with DSD.
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Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists.

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Most children with hypothalamic hamartoma (HH) manifest symptoms of epilepsy and associated cognitive deficits and behavioral difficulties as well as central precocious puberty (CPP). However, there is little to no research examining behavioral difficulties in children with HH without epilepsy, nor is there research examining treatments to address the behavioral difficulties of patients with HH without epilepsy. In the current case report, the authors implemented a validated parent management training program [the Brief Behavioral Intervention (BBI)], to treat symptoms of ADHD and disruptive behavior in a 6-year-old female patient with HH and CPP.

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Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency causes elevated androgen levels, which can lead to virilization of female external genitalia. Prenatal dexamethasone treatment has been shown to be effective in preventing virilization of external genitalia when started prior to 7-9 weeks of gestation in females with classic CAH. However, CAH cannot be diagnosed prenatally until the end of the first trimester.

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Women with Turner Syndrome (TS) have a variety of medical needs throughout their lives; however, the peripubertal years are particularly challenging. From a medical perspective, the burden of care increases during this time due to growth optimization strategies, frequent health screenings, and puberty induction. Psychologically, girls begin to comprehend the long-term implications of the condition, including their diminished fertility potential.

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Article Synopsis
  • - Disorders of sexual differentiation, like androgen insensitivity and gonadal dysgenesis, highlight a fluidity in gender that encompasses biological, anatomical, and social dimensions, influenced by societal norms.
  • - George Engel's biopsychosocial model supports a flexible understanding of gender, which helps manage uncertainties in sex assignment and prepares for possible future changes.
  • - It's essential for physicians to convey the biological aspects of gender fluidity to parents at diagnosis, educate them on potential hormone changes, and develop a clear sex-assignment algorithm as part of a good practice framework.
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Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7).

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Several different conceptualizations of Oppositional Defiant Disorder (ODD) symptoms have been proposed, including one undivided set of symptoms (DSM-IV-TR; APA 2000); two domains of symptoms subdivided into affective and behavioral; and three domains of symptoms subdivided as angry/irritable, argumentative/defiant, and spiteful. The current study utilizes a novel approach to examining the division of ODD symptoms through use of network analysis. Participants were 109 preschoolers (64 male) between the ages of three and six (M = 4.

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This study examines the impact of maternal depression on reductions in children's behavior problems severity following implementation of the Brief Behavioral Intervention-a brief, manualized parent management training treatment. The parents of 87 children aged 2-6 years of age received parent management training at a metropolitan hospital. Parents of participants completed measures of externalizing behavior and maternal depression.

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45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. Hence, patients can be assigned female or male sex. Female patients are managed according to the Turner Syndrome Guidelines, whereas males are managed on a case-by-case basis.

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Androgen insensitivity syndrome (AIS) is an undervirilization syndrome in individuals with 46, XY karyotype. The undervirilization can be complete feminization or incomplete virilization with grades of ambiguity. AIS is caused by mutations in the androgen receptor, resulting in resistance to the physiologic activities of androgens.

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DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK phocomelia syndrome.

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Nonclassical congenital adrenal hyperplasia (NCCAH) caused by 21-hydroxylase deficiency is a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood. The management of children with NCCAH can be challenging, as no universally accepted guidelines have been established. Our goal was to evaluate the literature and develop an evidence-based guideline for the medical management of children and adolescents with NCCAH.

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The impact of diabetes on the developing brain is well-accepted. Effects on neurocognitive functioning are moderate but have larger functional implications, especially when considered through a developmental lens. Pathophysiological factors such as severe hypoglycemia and chronic hyperglycemia can alter developmental trajectories in early childhood and perhaps at later periods.

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Objective: To determine whether impairments in neurocognitive functioning are detectable at type 1 diabetes diagnosis and associated with subsequent glycemic control.

Research Design And Methods: Children/adolescents (N = 147) aged 5-18 years completed neuropsychological testing during their inpatient hospitalization for new-onset type 1 diabetes. Test scores were compared with normative data using one-sample Student t tests.

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Objective: The aim of this study was to develop and validate a psychosocial screening tool to predict risk for poor glycemic control in children with type 1 diabetes.

Methods: Participants seen for psychological screening were 196 children aged 3-18 yr at diabetes diagnosis. A psychosocial risk index was developed to predict poor glycemic control [mean hemoglobin A1c (HbA1c) ≥ 9.

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Costello syndrome (CS) is a rare genetic disorder caused by germline mutations in the HRAS proto-oncogene which belongs to the family of syndromes called rasopathies. HRAS plays a key role in synaptic long-term potentiation (LTP) and memory formation. Prior research has found impaired recall memory in CS despite enhancement in LTP that would predict memory preservation.

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Parent management training is an evidence-based treatment for disruptive behavior. However, the number of treatment sessions can be high, contributing to high attrition rates. The purpose of this study was to examine post-treatment, 6-month, and 1-year treatment outcomes of the Brief Behavioral Intervention.

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