Manual of Child Neurology: Problem Based Approach to Common Disorders

Careful and detailed history is the key to accurate diagnosis. Children with neurological disorders may have long clinical course, multiple symptoms, and complicated histories. Therefore, an organized approach to history taking is required. It is a good practice to keep a problem list that would prioritize various manifestation and complications. Disorders that are inactive or remote should be lower on the list. This chapter deals with the organization and important details in the history taking of children with neurological complaints. History of the most commonly encountered disorders, such as developmental delay, epilepsy, and cerebral palsy, is described in details in the designated chapters.

Diagnosing neurological disorders requires accurate assessment including detailed neurological examination, which is an important step in formulating differential diagnosis and guiding laboratory investigations. Certain problems frequently face the junior physician including organizing a complete examination in a short time period, and consistently eliciting neurological signs. Certainly, repeated examinations and experience play an important role; however, solid knowledge and use of proper techniques are crucial for eliciting and interpreting neurological signs. Confidence in performing the nervous system examination appears to be critical in the proper evaluation and management of patients with neurological disorders. The approach and styles of different neurologists may vary; however, consistency in conducting the examination is critical. In this chapter, an outline for the examination of the nervous system is presented. Various procedures and techniques of eliciting physical signs and possible pitfalls in the nervous system examination will also be discussed.

Children are generally more difficult to examine when compared to adults. As well, physicians are usually judged by parents according to their skills in examining their children. Difficult and poorly cooperative children remain the most challenging group to examine accurately and completely. The physician becomes less confident and the neurological signs questionable if the child was uncooperative. Certainly, repeated examinations and experience play an important role; however, solid knowledge, strong communication skills, accurate observation skills, and use of proper techniques are crucial for eliciting and interpreting neurological signs in difficult children. In this chapter, I present some practical tips and skills that can be utilized to improve the likelihood of obtaining accurate information about the neurological status of young and difficult children.

In this chapter various aspects of normal development and assessment will be discussed. Development is a continuous process by which one acquires learned skills. Ongoing development results from the myelination process, as well as, synaptogenesis and organization of the nervous system. Developmental history is divided into gross motor, fine motor, language (receptive and expressive), and psychosocial skills. Wide variations exist in the development of normal milestones. For example, males tend to be faster in acquiring motor skills while females are faster in acquiring verbal skills.

Developmental disorders are a group of early and chronic disorders affecting 5-10% of children. Developmental delay is a subtype defined as significant delay in two or more of the following developmental domains: motor (gross and fine), language (receptive an expressive), cognition, social and adaptive activities. The estimated prevalence of global developmental delay is 1-3% of children younger than 5 years. Developmental delay is a clinical presentation of a wide variety of congenital or acquired etiologies. It results in significant learning deficits incompatable with the child’s chronological age. Significant delay in a given developmental domain is defined as performance two standard deviations or more below the mean for age. The term developmental delay is usually reserved for younger children (less than 5 years of age), whereas the term mental retardation is usually applied to older children when IQ testing is more reliable.

Cerebral palsy (CP) is a motor disorder resulting from a non-progressive (static) insult to the developing brain. In fact, CP is a clinical presentation of a wide variety of cerebral cortical or sub-cortical insults occurring during the first year of life. Preterm infants are at the highest risk for developing CP. The vulnerable brain is harmed during a critical period of development primarily by known CNS complications of prematurity such as intraventricular hemorrhage (IVH) and periventicular leukomalacia (PVL). Children with CP suffer from multiple problems and potential disabilities that require the provision of family centered services that make a difference in the lives of these children and their families. The aim of this chapter is to provide an updated overview of CP and review the most recent advances on clinical and therapeutic interventions.

The evaluation of children with suspected neurodegenerative disorders (NDD) requires good background knowledge, accurate assessment, and formulation of a list of differential diagnoses. The initial clinical assessment would guide the physician in requesting the required laboratory investigations in order to reach a specific diagnosis. Reaching a specific diagnosis is of clear importance for providing appropriate therapy, prognosis, and genetic counselling. Many students, residents, and fellows consider neurological disorders, particularly NDD, difficult to master. This reflects the diversity and complexity of various neurological disorders. Different classification systems exist making these disorders confusing to most physicians. However, in this chapter a concise and simple outline with practical tips to facilitate the diagnosis of various NDD will be presented. Important diagnostic tips and possible pitfalls will be discussed, as well as updates in terms of the diagnostic and therapeutic interventions.

Most encephalopaties due to an underlying metabolic (inborn error of metabolism) disorders are genetic, present early in life, and disrupt normal metabolic function. Most these disorders are individually rare, but collectively are common and important cause of preventable morbidity and mortality, both are high if missed or not treated early. There are more than 500 biochemically diverse disorders with many significant recent advances in the diagnosis and treatment that substantially improved prognosis. Pediatricians and neonatologists are vital in early identification, particularly given that the diagnosis needs to be established quickly. Collaboration with a specialized unit is needed for timely consultations and referrals. The neonatal period is a time of substantial catabolism, therefore, neonates has limited response to severe overwhelming illness resulting in death or permanent neurological sequelae. The aim of this chapter is to provide a practical approach to the recognition and investigations of metabolic encephalopathy presenting early in life. Guidelines for the stabilization and initial management will be provided.

Seizures are the most common cause of referral to pediatric neurology services and represent an important cause of pediatric morbidity. Epilepsy (recurrent unprovoked seizures) is a common neurological disorder in children with a frequency of 4-8 cases per 1000 children. Seizures in children have wide variations in clinical expression with age specific presentation. For example, primary generalized tonic clonic and absence seizures are extremely uncommon in infants and never occur in neonates. Benign rolandic epilepsy of childhood has an onset at 5 years and usually remits by age 15. Physicians are frequently faced with anxious parents and are required to make rational decisions regarding the workup and management of childhood epilepsy. They are subsequently required to provide counseling and information about the prognoses to the involved families. The aim of this chapter is to provide an updated overview of pediatric epilepsy and review the most recent diagnostic and therapeutic recommendations.

The diagnosis of epilepsy depends upon a number of factors, particularly detailed and accurate seizure history, or semiology. Other diagnostic data, consisting of electroencephalography (EEG), videomonitoring of the seizures, and magnetic resonance imaging (MRI), are important in any comprehensive epilepsy program, particularly with respect to lateralizing and localizing the seizure focus, if such a focus exists, and with respect to determining the type of seizure or seizure syndrome. The aim of this chapter is to present a survey of important semiologic characteristics of various seizures that provide the historian with observations, which help to lateralize and localize epileptic zones. Clinical semiology is the starting point of understanding a seizure disorder and making the diagnosis of epilepsy. While it may not provide unequivocal evidence of localization of the epileptic focus, nevertheless it usually directs subsequent investigations, whose concordance is necessary for the ultimate localization.

Febrile seizures are the most common seizure disorder in children <5 years of age. They occur in 2-5% of children, but the incidence has been reported as high as 14% in certain populations. This has been attributed to higher rates of consanguinity. However, racial and geographic variations may also be important. Most febrile seizures are brief, do not require any specific treatment or workup, and have benign prognoses. Generalists and pediatricians are frequently faced with anxious parents and are required to make rational decisions regarding the workup and management of these children. Physicians are subsequently required to provide counseling and information about the prognoses to the involved families. The aim of this chapter is to provide an updated overview of febrile seizures and review the most recent diagnostic and therapeutic recommendations.

Infections of the meninges (meningitis) and the brain (encephalitis) needs to be identified and managed promptly in order to prevent associated morbidity and mortality. Symptoms and signs of raised intracranial pressure are frequently the initial features of meningitis caused by bacterial or viral infections. Encephalitis is more frequently caused by viral infections with features that include seizures, personality change, decreased consciousness, and focal neurological manifestations. As the infection progress, mixed features are frequently encountered (meningoencephalitis). In this chapter, an updated overview of meningitis and encephalitis in infants and children is presented.

Hypotonia in infants and children can be a confusing clinical presentation, which often leads to unnecessary investigations. Stepwise and accurate assessment is very important to reach the correct diagnosis. Although specific treatments are not always available, accurate diagnosis is critical to predict the clinical course, associated manifestations, complications, prognosis, and provide genetic counseling. In this chapter, I present a concise clinical approach for evaluating the hypotonic infant. Some practical tips and skills are discussed to improve the likelihood of obtaining accurate diagnosis.

Weakness is a common presentation of a wide variety of central and peripheral nervous system disorders. Weakness can be due to an organic CNS lesion or due to pseudoparalysis secondary to pain. Weakness due to brain lesion usually takes the distribution according to the site and extent of the lesion (e.g. hemiplegia, diplegia, quadriplegia). Weakness due to peripheral nervous system lesion can be predominantly distal (neuropathic) or proximal (myopathic). The approach to a child presenting with acute or chronic weakness is presented in this chapter.

Stroke is defined as a rapidly developing clinical signs of focal or global disturbance of cerebral functions with symptoms lasting 24 hr or longer or leading to death with no apparent cause other than of vascular origin. Childhood stroke is increasingly recognized with an incidence exceeding 3.3 in 100, 000 children per year, more than double the estimates from past decades. The risk factors for ischemic stroke in children are diverse and challenging. The most common cause of ischemic stroke in children is thrombotic vessel occlusion. Risk factors include prothrombin 20210G-A (PT20210) mutation, factor V Leiden 1691 G-A mutation, and hereditary deficiencies of protein S, protein C, and antithrombin III. Recently, another thrombophilic factor has been described, that is, an elevated level of factor VIII procoagulant activity. Cardio-embolic causes are amongst the most important to identify early in order to prevent recurrence. Spastic hemiplegia can also be an initial manifestation of a number of metabolic or degenerative disorders such as Metachromatic leukodystrophy, Adrenoleukodystrophy, Leigh disease, MELAS, Sneddon syndrome, Homocystinuria, Fabry disease, and Menkes disease. Finally, inherited dyslipidemic states can occur rarely in children resulting in atherosclerotic disease. Many of these disorders have a distinct inheritance patterns and specific defects. Establishing such specific diagnoses will be therefore extremely important for providing appropriate therapy, prognosis, and genetic counseling.

Movement disorders are relatively common in the pediatric neurology practice. Describing and reading about the characteristics of these movements does not substitute the need to observe them in practice. Once the physician see such movements, recognition becomes easier. All movement disorders are abnormal and involuntary. Most of them disappear in sleep except palatal myoclonus, which is due to a lesion in the central tegmental tract. Identifying abnormal movements depends on their characteristics including whether they are slow or fast, rhythmic or arrhythmic, intermittent or continuous, present at rest or action, and distributed proximally or distally. In this chapter, important movement disorders will be discussed depending on the clinical features rather than the specific disease.

Unsteady gait and ataxia are relatively common neurological presentation of a variety of acute and chronic disorders. Accurate assessment includes detailed history, examination, and then formulation of a differential diagnosis list to guide laboratory investigations. In this chapter, a clinical approach to the unsteady child is presented with discussion of diagnostic considerations, approach to investigation, treatment, and prognosis.

Headache is a common complaint, occurring in the majority of school age children. The frequency increases with increasing age and the etiologies range from tension to life-threatening infections and brain tumors. Migraine is the most frequent cause of acute and recurrent headaches in children. Children are usually brought to medical attention to exclude serious causes, such as brain tumors or meningitis. A thorough history, physical and neurological examination, and appropriate diagnostic testing (if indicated) will enable the physician to distinguish tension and migraine headaches from those of a secondary etiology. Children with recurrent headaches are more likely to have certain migraine related phenomena, such as motion sickness, teeth grinding (bruxism), sleep talking and walking (somnambulism), and syncope. Most patients with migraine have type A personality, making them worry allot, perfectionist, and high achievers. This may provide further risks and potential triggers to the recurrent headaches.

Two important acute demyelinating disorders will be discussed in this chapter; multiple sclerosis (MS) and acute disseminated encephalomyelitis (ADEM). The distinction between the two disorders can be problematic, but in this chapter, a concise summary of these two disorders will be presented. Childhood MS is rare and has different genetic risk factors and similar clinical and MRI findings to adult onset MS. Exposure to extrinsic environmental factors during early childhood in genetically predisposed individuals is believed to trigger MS.

Cardiopulmonary resuscitation (CPR) is now routinely performed on any hospitalized patients who suffer cardiac or respiratory arrest. Children with irreversible or progressive terminal illness may benefit temporarily from CPR, only to deteriorate later on. Painful and invasive procedures may be performed unnecessarily and the child could be left in a worse condition. A "do not resuscitate" (DNR) order indicates that the treating team has decided not to have CPR attempted in the event of cardiac or pulmonary arrest. In this chapter, various aspects related to the DNR decision making in children will be discussed and summary of the published guidelines by the Royal College of Pediatrics & Child Health and the American Academy of Pediatrics will be presented.

Brain death implies the permanent absence of all cerebral and brainstem functions. The diagnosis of brain death is usually made clinically. The criteria require the occurrence of acute and irreversible CNS insult. Drug intoxication, poisoning, metabolic derangements, and hypothermia should be corrected for accurate brain death evaluation. At least two expert examiners are required to make the brain death determination. It is advisable to involve an independent examiner not involved in the patient's care or the recovery of donated organs. The objective of this chapter is to present updated guidelines for the process of brain death determination. All brain and brainstem functions should be absent on neurological examination including cerebral response to external stimuli and brain stem reflexes. An apnea test should be performed in all patients. However, if the clinical criteria cannot be applied, other confirmatory ancillary tests are required, particularly EEG and radionuclide scan. They are also needed to supplement the clinical assessment in young children. EEG is more reliable in the setting of hypotension or with disorders that lower intracranial pressure. While tests of brain blood flow are preferred in the setting of hypothermia, metabolic, or drug confounders.

Many traumatic, infectious, vascular, and neoplastic neurological disorders carry poor prognoses for complete neurological recovery. These disorders may result in chronic disability with multiple medical and neurological complications. The common practice of consanguineous marriage in Saudi Arabia results in a high prevalence of many inherited and genetic neurological and metabolic disorders. Many of these children exhibit progressive deterioration in cognitive, language, and/or motor function. Because of the high incidence of such disorders, many of which cannot be characterized, the necessity of facing parents with discussions regarding prognosis is not uncommon.