Current developmental screening practices in young children with sickle cell disease.

Despite recent developmental screening guidelines, rates of neurodevelopmental disorders (NDDs) remain lower than expected in children with sickle cell disease (SCD). A retrospective chart review identified 276 eligible patients; 214 charts were available for developmental screening and 207 charts for autism-specific screening. Developmental surveillance/screening was conducted in 70% of charts and autism-specific screening in 19% of charts. Validated tools were used in 32% of developmental screenings and 92% of autism-specific screenings. Many children (57%) were screened outside recommended ages. In conclusion, children with SCD are not regularly receiving appropriate developmental screening and surveillance by their healthcare providers.

Co-Occurrence of Neurodevelopmental Disorders in Pediatric Sickle Cell Disease.

OBJECTIVE: The objective of this study is to retrospectively determine the co-occurrence, associated characteristics, and risk factors for neurodevelopmental disorders (NDD) in a pediatric sickle cell disease (SCD) clinic population. METHOD: We investigated the co-occurrence and features of NDD in pediatric SCD through a retrospective cohort study conducted between July 2017 and January 2019. The participants were patients with SCD younger than 18 years of age identified from our institutions' clinic rosters and medical records databases. RESULTS: A total of 276 participants were eligible for study inclusion, and 65 participants were found to have various NDD. Children with SCD and NDD were more likely to have a history of multiple SCD-related complications in comparison to children with SCD without NDD. Children with SCD and NDD were more likely to use disease-modifying therapies in comparison to children with SCD without NDD (χ2 27.2, p < 0.001). CONCLUSION: Children with SCD and NDD have higher odds of having certain disease-related complications and higher use of disease-modifying treatments than children with SCD who do not have NDD. Screening and diagnoses of NDD may be relevant to clinical management of pediatric SCD.

What are neurodevelopmental disorders?

PURPOSE OF REVIEW: The purpose of this review is to highlight the origin and evolution of the field of neurodevelopmental disabilities and describe the main construct(s) upon which the current classification of neurodevelopmental disorders is based. RECENT FINDINGS: We address the following questions: Are neurodevelopmental disorders independent entities? Why is it desirable to understand the neurobiological substrate for these disorders? What new knowledge have we generated by leveraging advances in neuroscience, genetics, and neuroimaging? And finally, is the current construct, that is based on functional classification, still useful? SUMMARY: As our biological understanding of brain-behavior disorders evolves, we ought to re-evaluate the current classification system and expand it into a multidimensional classification that takes into account behavioral profiles and underlying mechanisms.

Risk Factors for Attention and Behavioral Issues in Pediatric Sickle Cell Disease.

BACKGROUND: Children with sickle cell disease have an increased risk of neurodevelopmental disorders such as attention deficit hyperactivity disorder, intellectual disability, and specific learning disabilities. Little research has been done to characterize the sickle cell disease-related characteristics associated with neurodevelopmental disorders in the sickle cell disease population. METHODS: This study was a retrospective chart review involving the outpatient records of 2 medical centers, Kennedy Krieger Institute and Johns Hopkins Hospital. Participants in the study included 59 children with sickle cell disease with a documented neurodevelopmental diagnosis, specifically attention deficit hyperactivity disorder, attention issues, behavioral issues, executive dysfunction, specific learning disabilities in math, reading, and reading comprehension, intellectual disabilities, developmental delay, fine motor disorders, language disorders, or autism spectrum disorders. RESULTS: Children with sickle cell disease type hemoglobin S-ß thalassemia plus had significantly higher odds of attention issues than children with sickle cell disease type hemoglobin SS (OR = 17.0, 95% CI = 1.99-145.00, P < .02). Children with sickle cell disease and a reported history of asthma had significantly higher odds of behavioral issues than children with sickle cell disease without a history of asthma, after adjustment for gender and sickle cell disease type (exact OR = 19.53, 95% CI = 1.16-1369.72, P < .04). CONCLUSION: Children with sickle cell disease may have increased risk for certain neurodevelopmental diagnoses based on their disease characteristics and associated comorbidities. These preliminary study results should be explored in a larger database.

The effects of aging on the BTBR mouse model of autism spectrum disorder.

Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder characterized by alterations in social functioning, communicative abilities, and engagement in repetitive or restrictive behaviors. The process of aging in individuals with autism and related neurodevelopmental disorders is not well understood, despite the fact that the number of individuals with ASD aged 65 and older is projected to increase by over half a million individuals in the next 20 years. To elucidate the effects of aging in the context of a modified central nervous system, we investigated the effects of age on the BTBR T + tf/j mouse, a well characterized and widely used mouse model that displays an ASD-like phenotype. We found that a reduction in social behavior persists into old age in male BTBR T + tf/j mice. We employed quantitative proteomics to discover potential alterations in signaling systems that could regulate aging in the BTBR mice. Unbiased proteomic analysis of hippocampal and cortical tissue of BTBR mice compared to age-matched wild-type controls revealed a significant decrease in brain derived neurotrophic factor and significant increases in multiple synaptic markers (spinophilin, Synapsin I, PSD 95, NeuN), as well as distinct changes in functional pathways related to these proteins, including "Neural synaptic plasticity regulation" and "Neurotransmitter secretion regulation." Taken together, these results contribute to our understanding of the effects of aging on an ASD-like mouse model in regards to both behavior and protein alterations, though additional studies are needed to fully understand the complex interplay underlying aging in mouse models displaying an ASD-like phenotype.

Confounding diagnoses in the neurodevelopmental disabilities population: a child with hearing loss, absence epilepsy, and attention-deficit hyperactivity disorder (ADHD).

We report the case of a school-age child with a history of hearing loss presenting with staring spells. Electroencephalography (EEG) revealed a pattern consistent with absence epilepsy, and the patient was started on antiepileptic medication with decreased frequency of staring spells but he then continued to have behavioral issues. The patient was diagnosed subsequently with combined-type attention-deficit hyperactivity disorder (ADHD) and started on stimulant medication with subsequent improvement in attention and school performance. Multiple confounding diagnoses are common in children with neurodevelopmental disabilities, and comprehensive evaluation is required for appropriate management.

Aging and bone health in individuals with developmental disabilities.

Low bone mass density (BMD), a classical age-related health issue and a known health concern for fair skinned, thin, postmenopausal Caucasian women, is found to be common among individuals with developmental/intellectual disabilities (D/IDs). It is the consensus that BMD is decreased in both men and women with D/ID. Maintaining good bone health is important for this population as fractures could potentially go undetected in nonverbal individuals, leading to increased morbidity and a further loss of independence. This paper provides a comprehensive overview of bone health of adults with D/ID, their risk of fractures, and how this compares to the general aging population. We will specifically focus on the bone health of two common developmental disabilities, Down syndrome (DS) and cerebral palsy (CP), and will discuss BMD and fracture rates in these complex populations. Gaining a greater understanding of how bone health is affected in individuals with D/ID could lead to better customized treatments for these specific populations.

Bajo rendimiento escolar: una perspectiva desde el desarrollo del sistema nervioso / Academic underachievement: a neurodevelopmental perspective

El bajo rendimiento escolar (BRE) es un problema frecuente y tiene múltiples causas; las alteraciones que lo caracterizan se expresan fundamentalmente en las áreas de funcionamiento cognitivo, académico y conductual. El bajo rendimiento escolar es una vía final común de diferentes trastornos, etiologías y mecanismos. Es habitual la presencia de múltiples alteraciones, porque la disfunción cerebral en la niñez generalmente afecta a muchas funciones. Consecuente con lo anterior, los programas de manejo deben ser individualizados, comprensivos e incorporar aspectos del niño en particular la escuela y la familia. La planificación del tratamiento incluye educación y entrenamiento de los padres, adecuaciones académicas, técnicas para mantener la autoestima y un enfoque psicofarmacológico. Es necesario monitorear en forma continua los programas de manejo especialmente para detectar comorbilidades importantes que puedan emerger, para realizar modificaciones que se adecuen a los cambios en las demandas académicas y sociales a las diferentes edades del niño y para proveer de información actualizada. Las consecuencias que tenga el bajo rendimiento escolar para el niño dependerán en medida importante de las alteraciones subyacentes. El personal de salud tiene múltiples roles en la prevención, detección, diagnóstico y manejo del niño con bajo rendimiento escolar.

Disorders of attention or learning in neurodevelopmental disorders.

Disorders of attention or learning commonly accompany neurodevelopmental disorders. The evaluation and diagnosis of these disorders is complex and does not always follow techniques used for typically developing children. These disorders are often underappreciated and inadequately addressed because they are overshadowed by the neurodevelopmental disorder. Nevertheless, failure to recognize, diagnose, and manage these disorders may result in unsuccessful community integration.

Neurodevelopmental disabilities: beyond the diagnosis.

Increasingly clinicians are taking more active roles in the management of children with neurodevelopmental disorders. Management of these children extends beyond traditional boundaries of health. The purpose of this review is to provide clinicians with an approach to the management of children with neurodevelopmental disorders. Patient advocacy is crucial for effective practice when working with children with neurodevelopmental disabilities. An effective advocate understands how a child's impairments relate to his/her limitations and works to prevent barriers to participation. The advocate recognizes the multiple domains in a child's health and life that must be addressed. An overall management program should be developed in cooperation with the child's primary advocates, his/her family. There are multiple different therapies, each with its own goals, that should be coordinated and prioritized as part of this plan. Federal programs can provide some of these therapies for children.

Cerebral palsy: A reconceptualization of the spectrum.

Approximately 50 years ago, interest in cerebral palsy increased, and the current definitions and classification were developed. The interplay among the dimensions of significant impairment, nonprogressive lesions, and persistence defines a group of children who were of interest to the researchers who developed the definition. Cerebral palsy as a definition does not attend to the broader issues of neurodevelopmental dysfunction. It isolates a portion of the spectrum of motor dysfunction and creates a category whose bounds are defined by a range of motor capability. The classifications of cerebral palsy that require revision are discussed. Some classifications should be discarded. Others should be brought in line with current knowledge and approaches. Still others should be modified to encompass the broader views of function and therapy that reflect the current expectations for persons with disabilities.