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Movement Disorders in Childhood

The clinical evaluation of childhood movement disorders depends on the crucial step of phenomenology that precedes and guides evaluation and management. Historically, many of the chronic movement disorders were identified as phenotypic syndromes based on clinical presentation, associated symptoms, and disease course. With the growing availability of genetic testing, more of the underlying metabolic and heredodegenerative disorders causing chronic movement disorders are being identified, producing a…

Paroxysmal Disorders

Paroxysmal disorders can be broadly classified into epileptiform and nonepileptic events. The nonepileptic episodes are often referred to by the generic term spells . They may mimic epileptic seizures but are not associated with the typical rhythmic EEG patterns characteristic of seizures ( Table 39.1 ; see Chapter 40, Chapter 7 ). These spells can be a manifestation of myriad etiologies leading to transient loss of…

Hypertonicity

Definitions Tone is defined as resistance to passive stretch while a patient is attempting to maintain a relaxed state of muscle activity. Tone can be divided into postural tone, which represents the steady flexion or extension of a joint caused by the uniform resistance of muscle to passive movement, and phasic tone, which represents the catch when an extremity is rapidly flexed or extended. Hypertonia describes…

Stroke

Stroke is a sudden focal neurologic syndrome caused by an abrupt and critical interruption of the normal metabolic function of the central nervous system (CNS), typically due to ischemia or hemorrhage. Depending on where in the CNS this interruption occurs, the symptoms of stroke can be striking, such as acute lateralized weakness, though at times are subtle, mimicking other and sometimes more benign neurologic processes or…

Rhabdomyolysis

Rhabdomyolysis Rhabdomyolysis is an acute muscle injury resulting in myocyte cell death with subsequent release of toxic intracellular compounds producing muscle and systemic symptoms. This differs from hyperCKemia, in which there is elevated creatine kinase in the serum secondary to dysfunction of the myocyte sarcolemma. These diagnoses represent a broad category of disease processes with a large differential diagnosis. The difficulty lies in differentiating between the…

Hypotonia and Weakness

Muscle Weakness and Hypotonia As a symptom, hypotonia may be overt in its presentation, with the manifestations of low muscle tone apparent to family and the medical team alike. Other times, hypotonia may be insidious, subtly presenting to an examiner during a medical evaluation and only rising to the awareness of family when delays or regressions in milestones are pointed out in the process of obtaining…

Headaches

Headaches are classified as primary or secondary. Primary headaches are benign, are not caused by underlying disease or structural problems, and include migraines, tension-type headaches (TTHs), and the trigeminal autonomic cephalgias (TACs). Migraines and TTHs are the most common primary headaches in children and can have less distinct features in children than they do in adults ( Table 34.1 ). While primary headaches may cause significant…

Chronic Pain

Chronic Pain Chronic pain is often defined as recurrent or persistent pain lasting ≥3 months. The child may have a definable medical condition but often does not have a specific disease diagnosis or identifiable etiology for the pain other than the pain symptoms (often called chronic primary pain or central pain syndrome), and the central pain syndrome is often associated with other overlapping pain conditions. Chronic…

Autistic-like Behaviors

Autism spectrum disorder (ASD) is a neurobiologic disorder with onset in early childhood; it is characterized by impaired social communication and interaction accompanied by restricted and repetitive behaviors. With definitions that vary dependent on agencies, schools, and clinicians, there is often confusion surrounding the diagnosis of ASD. This is the term used for all children who were, in previous editions of the Diagnostic and Statistical Manual…

Emotional and Behavioral Symptoms

The history is the most important tool for identifying a psychiatric disorder. The initial focus in conducting the history is to establish rapport and to ensure the child’s safety. Safety should always be assessed and should include risk of suicide, homicide, and abuse (physical, sexual, emotional, and neglect). The history should then focus on delineating the specific behaviors of concern, on identifying any stressors that may…

The Irritable Infant

An irritable infant is a challenge to the caregiver and medical provider and is a common presenting complaint in early infancy. An irritable infant is defined here as a patient younger than 1 year of age who, according to the caregiver, cries excessively or is excessively fussy without a specific defined time period. In addition, this chapter also addresses issues of an irritable toddler (∼2–3 years…

Dysmorphology

With advancing genomic technology, disorders previously identified to be unique phenotypes are now recognized as sharing common pathways or developmental mechanisms. The clinical diagnostic paradigm is evolving to a “genomic” first approach and is less reliant on the detailed phenotype to select single-gene tests to reach a diagnosis. Technology has also introduced machine learning in the form of facial recognition linked to diagnostic databases to facilitate…

Neurocognitive and Developmental Regression

The etiology of intellectual developmental disabilities includes a wide spectrum of disorders that may present at different periods of development (infantile, juvenile, adult) and with different trajectories ( Fig. 28.1 ). Some are static encephalopathies (cerebral palsy, hypoxic-ischemic encephalopathy), while others are progressive, resulting in intellectual, neurologic, and/or developmental regression ( Table 28.1 ). Open full size image Fig. 28.1 Potential developmental trajectories. From Holland J,…

Intellectual Developmental Disorders (Developmental Delay)

Definitions Intellectual disability (ID) has replaced the older term mental retardation (MR), reflecting a more enlightened and progressive attitude toward individuals with disabilities, both physical and cognitive. ID is characterized by significant limitations in intellectual functioning and in adaptive behavior that begin before age 18 years and are expressed in conceptual, social, and practical adaptive skills. The impairments of ID extend beyond what is measured on…

Disorders of Sex Development

The term disorders of sex development (DSD) replaces the former terms intersex and hermaphroditism ( Table 26.1 ). The most common presenting symptom of DSD is atypical (ambiguous) genitalia at birth. Other presenting signs and symptoms include lack of some or all aspects of pubertal development, postnatal virilization of a phenotypic female, or infertility. The classification of DSD is based on broad categories related to blood…

Menstrual Problems and Vaginal Bleeding

Prepubertal Vaginal Bleeding The source of abnormal vaginal bleeding during prepubertal childhood is much more likely to be the vulva or vagina rather than the uterus. There are unique characteristics making history and physical examination effective in narrowing the diagnostic possibilities as seen in Table 25.1 . Collecting information regarding recent trauma, medication exposure, rashes or irritation of the external genitalia, abdominal pain, chronic cough, constipation,…

Acute and Chronic Scrotal Swelling

The most serious causes of acute scrotal swelling are testicular torsion and incarcerated inguinal hernia, both of which necessitate immediate surgical correction. Consequently, a prompt, careful approach to a painful or inflamed scrotum is essential. The differential diagnosis of scrotal swelling is extensive and varies depending on the age of the patient ( Tables 24.1 and 24.2 ). The most common causes include testicular torsion, torsion…

Hematuria

Hematuria is a common issue faced by primary physicians who care for children. While it can cause great anxiety in the patient and family when it presents as gross hematuria, rarely does hematuria alone herald a serious illness during childhood. Indeed, despite thorough evaluation, no cause can be found in a large percentage of children who have hematuria. Nearly 40% of children who present with gross…

Proteinuria

Proteinuria can be detected by various means, and the most common is the dipstick test, a calorimetric assay that spots only albumin and not low-molecular-weight proteins. In addition, false-positive dipstick assessment can be seen with highly concentrated urine, alkaline urine, the presence of contrast media, vaginal secretions, or semen. False negatives are less common but can be seen with very dilute urine. Though 24-hour urine collection…

Dysuria

Dysuria is defined as painful urination and can be related to uncomfortable contraction of the muscles of the bladder or when urine comes into contact with the inflamed genitourinary mucosa. The differential diagnoses for a patient presenting with dysuria are extensive ( Table 21.1 ) and can be due to infectious or noninfectious causes. The cause of dysuria varies based on age of the child or…