A Delayed Diagnosis of Autism Spectrum Disorder in the Setting of Complex Attention Deficit Hyperactivity Disorder.

Autism spectrum disorder (ASD) presents a diagnostic challenge due to its highly heterogeneous nature. The most common clinical manifestations include difficulty with social interaction and the presence of repetitive sensory-motor behaviors. Females are more likely to be misdiagnosed or have a delayed diagnosis compared to males. Other factors that contribute to delayed diagnosis include low socioeconomic status and belonging to an ethnic minority. In pediatrics, the goal of ASD screening is to diagnose ASD earlier, with timely referral to early intervention services, so that better long-term neurodevelopmental outcomes can be achieved. Moreover, attention deficit hyperactivity disorder (ADHD) is the most common comorbidity in patients with ASD. While the Diagnostic and Statistical Manual of Mental Disorders fourth edition (DSM-4) prohibited a co-diagnosis of autism and ADHD, the DSM-5 has modified exclusion criteria to allow such. This case describes a minority adolescent male patient who presented initially with complex ADHD, who upon extensive evaluation, was ultimately diagnosed with co-existing autism. This patient's diagnosis of ASD at the age of 14 in the setting of a pre-existing complex ADHD diagnosis demonstrates how symptoms of inattention or hyperactivity may convolute underlying or newly emerging social interaction difficulties. We highlight how children who are diagnosed with ADHD should be screened or evaluated for autism in the right clinical setting, such as evident persistence of social interaction impairment despite ADHD treatment.

Delayed Diagnosis of Osteogenesis Imperfecta: A Differential Diagnosis Guided by Competing Ocular Findings and a Lack of Family History.

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with variable clinical manifestations involving many structures and organ systems, leading to characteristic presentations such as low bone mineral density (BMD), vertebral compression fractures, hearing loss, and blue sclerae. Even within the same family, individuals with the same inherited genotype may have differential presentations due to variable expressivity. Early diagnosis of OI in the pediatric population may allow for earlier treatment and interprofessional interventions. This case describes a minority female infant who initially presented with bilateral complexion-associated melanosis (CAM) inclusions in her eyes. The appearance of her inclusions was reminiscent of the blue sclera seen in OI; however, there was no clinical suspicion for OI on birth, developmental, and family histories. Her growth and development were unremarkable at all well-child checks until her three-year well-child check. It was then discovered that she suffered multiple long bone fractures due to low trauma, vertebral compression fractures, and kyphoscoliosis. Due to the occurrence of these fragility fractures, she was given a clinical diagnosis of osteoporosis with pending genetic testing for osteogenesis imperfecta. It was later discovered that there was, in fact, an extensive history of recurrent childhood fractures in the patient's brother, mother, and numerous maternal relatives. Our case demonstrates the greater need for certified medical interpretation services to obtain clear past medical and family history, especially in the face of language barriers and low health literacy, in conjunction with clinical findings, i.e., CAM, to guide the differential diagnosis and subsequent management appropriately.

Case of Treatment-Resistant Aggression in the Context of a Medically Underserved Community.

Aggression tends to decrease as a child matures and develops conflict resolution skills. However, aggression can persist if children are exposed to consistent negative stimuli, such as poor parenting and adverse childhood experiences (ACEs). Furthermore, aggression is commonplace in numerous psychiatric disorders, such as attention deficit hyperactivity disorder (ADHD) and oppositional defiant disorder. These negative stimuli and comorbid conditions could ultimately stunt a child's development during pivotal moments, leading to worsening aggressive behaviors, such as criminal activity. Behavioral interventions are imperative for individuals with these comorbid conditions and experiences. Our patient is an 11-year-old male with a pertinent past medical history of ADHD and disruptive mood dysregulation disorder (DMDD) on multiple psychotropic medications, who presented to the emergency department for the evaluation of homicidal ideation and suicidality. This also occurred with worsening aggressive behavior, demonstrated by his killing of family pets and subsequent threats to kill his family. The patient has had multiple emergency department visits for similar threats and has been admitted to numerous inpatient psychiatric facilities. Currently, the patient is being treated at an out-of-state inpatient psychiatric facility. Our patient's aggression most likely stems from his comorbid ADHD and DMDD, complicated by other factors, such as low socioeconomic status, limited access to mental health services, and living in a medically underserved community. Factors such as increasing primary care provider comfort in managing these conditions, especially in underserved communities where there are already shortages of mental health providers, could help address this issue. Furthermore, it is imperative to screen for other contributing factors, such as ACEs. This case also highlights the need for genetic testing as a part of the medical workup in psychiatric cases that display psychotropic medication resistance. However, genetic testing is something that is not readily available in our state and is not covered by Medicaid. Early treatment of mental health conditions can prevent social difficulties later in life. With aggression, providing appropriate interventions is key to preventing an individual from engaging in harmful activities. It is important to screen for ACEs in order to address well-known aggravating factors. Underserved populations also face a myriad of challenges that prevent them from accessing healthcare services. There are numerous problems contributing to this disparity, ranging from lack of adequate mental health services to lack of access. Accordingly, it is imperative that primary care physicians and providers practicing in underserved areas receive the training necessary to recognize and treat mental health conditions. Furthermore, physicians should be able to focus on psychosocial stressors that contribute to these mental health conditions and provide the resources necessary to address these factors.

A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia.

Anomalies of the corpus callosum, including complete agenesis, partial agenesis, and hypoplasia, are some of the most common brain malformations. Corpus callosum abnormalities are potentially syndromic, many of which have identifiable genetic etiologies. Patients affected with either syndromic or non-syndromic corpus callosum anomalies may also have associated ophthalmologic abnormalities. Some of the syndromes with corpus callosum malformations that also involve ophthalmologic findings include Aicardi syndrome, Mowat-Wilson syndrome, and Xia-Gibbs syndrome. This case report describes a patient with hypoplasia and possible dysgenesis of the corpus callosum noted on magnetic resonance imaging (MRI) who had several ophthalmologic findings, including ophthalmoplegia, strabismus, and nystagmus, associated with microcephaly, dysmorphic facial features, global developmental delay, hypotonia, and cryptorchidism. While several previously identified syndromes share similar clinical features with this patient, these findings may also represent an unidentified genetic syndrome, and the patient remains under evaluation for a genetic diagnosis. This report explores the differential for ophthalmologic abnormalities in the setting of corpus callosum hypoplasia.