Cerebral palsy-definition, classification, etiology and early diagnosis

Cerebral palsy is a common neurodevelopmental condition encountered by pediatricians. The condition may present itself in many diferent clinical spectra. The etiological and risk factors are many and an awareness of the interplay of multiple factors in the causation of CP is crucial. In many cases, the cause of Cerebral palsy may not be apparent. Cerebral palsy is invariably associated with many deficits such as mental retardation, speech and language and oromotor problems. A thorough neurodevelopmental assessment of the child with Cerebral Palsy should include evaluation of associated deficits so that a comprehensive early intervention program an be planned and executed.     

The management of immune thrombocytopenic purpura

The most common cause of thrombocytopenia in childhood is immune. The diagnosis must be carefully considered, as there are no specific diagnostic tests. Most children have an acute disease with spontaneous remission within a few weeks. Although the platelet count may be very low, bleeding symptoms are rarely severe, and most often restricted to the skin and mucous membranes. Most children do not require active treatment, but can be managed with good advice, ongoing support and a 24-h contact point. Children with significant bleeding problems may be treated with oral steroids, reserving intravenous immunoglobulin for emergencies or to cover injuries and surgery. About 20% of children continue with thrombocytopenia beyond 6 months (chronic ITP), but expectant management can continue, treatment is rarely required. Splenectomy is rarely required and should be reserved for the very rare child with serious bleeding persisting beyond 6 or 12 months.     

The child with Cerebral Palsy-clinical considerations and management

Cerebral Palsy (CP) is a non-progressive disorder of the motor system secondary to brain injury during early development. Associated non-motor problems are frequent and contribute significantly to the disability. While spastic CP is the commonest, dyskinetic CP continues to be a problem in our contribute. Acquired CP mostly secondary to CNS infections constitutes a significant proportion of cases in developing countries. Early diagnosis, proper assessment of the functional capacity and needs of the child and providing early intervention are important., A multidisciplinary approach to management with active parental involvement helps the child achieve his potential.     

Unusual case of 'trapped fourth ventricle' in a child with posthemorrhagic hydrocephalus--lessons learnt

In most of the children with posthemorrhagic hydrocephalus (PHH), multidisciplinary follow-up is performed, with the focus on consequences of prematurity, cerebral palsy (CP) and hydrocephalus. A large fourth ventricle is common in these children but imaging performed in order to document ventricles and tissue damage is not oriented to exclude coexisting rare pathologies. We report a 3-year-old child with spastic CP, secondary to prematurity and PHH. A ventriculoperitoneal shunt was inserted at the age of 2 months. On follow-up imaging the child demonstrated well-drained supratentorial ventricles with a persistent large fourth ventricle. Because of a neurological change in spasticity and new-onset torticollis, a repeat MRI was performed, suggesting a cystic, nonenhancing lesion of the fourth ventricle. The surgical exploration revealed a large dermoid of the fourth ventricle. We analyze the differential diagnosis of a clinically significant large fourth ventricle in a shunted child with PHH and CP. This includes conditions without pressure in the posterior fossa such as tissue loss due to cerebellar atrophy, or pathologies causing a true increase in pressure of the fourth ventricle (isolated fourth ventricle, cystic lesions and neoplasms of the fourth ventricle). Neurologically compromised children pose additional challenges in reaching a definitive diagnosis and hence require a careful regular assessment of their clinical status with additional well-timed imaging with appropriate protocols to allow appropriate treatment when indicated and to avoid morbidity due to delayed diagnosis. We present a rare coexistence of a dermoid tumor within the fourth ventricle in a CP child with PHH and express the dilemmas associated with its management.     

Childhood epilepsy in relation to mental handicap and behavioural disorders

Epidemiological studies indicate that there is a high rate of mental retardation and behavioural problems in children with epilepsy. In some cases both the epilepsy and the mental retardation will have a common cause, such as a metabolic disorder or brain trauma. However, in other children, the epilepsy itself may cause either temporary or permanent learning problems. When permanent learning disability can be prevented it is important to treat the epilepsy early and effectively. Children with specific learning difficulties and memory problems can benefit greatly from appropriate management. There are many causes of behavioural disturbance in children with epilepsy. These causes include the epilepsy itself, treatment of the epilepsy, reactions to the epilepsy, associated brain damage/dysfunction and causes that are equally applicable to children who do not have epilepsy. Identifying the cause or causes in each child allows rational management to be provided. Antiepileptic treatment with medication or surgery can either improve the situation or make matters worse. The treatment should be tailored to the needs of the individual child. If surgery is required, there is a strong argument for performing this early in life, both to allow the greatest opportunity for brain plasticity and also to allow the child full benefit from the important developmental and educational years, without the problems that can be associated with the epilepsy. Skilled management of children with epilepsy who have mental retardation and/or behavioural problems can be very rewarding both for the family and for the professionals involved.     

Sports injuries in children and the clumsy child.

The clumsy child may be clumsy for various reasons. The child may have a host of different athletic injuries that, although trivial, may cause him or her to limp or fall. These have to be ruled out and sought out. The unique physiology of children has to be considered in making the diagnosis. One is also obligated to rule out the other causes of clumsiness, rotational deformities, neurologic problems, or muscle diseases. And finally, one should not label the normal child who may not be a great athlete as clumsy or refer the child for unnecessary therapy or treatment.     

Common psychological problems in cerebral palsy

Cerebral palsy (CP) refers to a collection of motor impairments which result in abnormal posture and movement following an insult or damage to the developing brain. Psychological adjustment in children with CP is under researched with little population-based or longitudinal data, but there is sufficient evidence to suggest that children with CP are at increased risk for psychological problems. The types of difficulties they experience include emotional, hyperactivity and peer problems with conduct disorder being more prevalent in mildly affected children. The origins of psychological problems in this group are complex but include ‘disease’ and ‘psychosocial’ factors related to having a brain-based disability in the family, as well as other factors that influence adjustment in all children. There are no intervention studies in children with CP aimed at preventing psychological problems or promoting mental wellbeing. However, evidence from other work suggests it is possible to work with the child and family to develop skills, manage symptoms, and build confidence and resilience. Acting as early as possible has been found to be beneficial for bonding, child development and reducing parental anxiety.     

The hip in cerebral palsy

Cerebral Palsy (CP) is a common cause of progressive musculo–skeletal deformity and loss of function in children; with an incidence of around 3/1000 live births. The majority of even the most severely involved children survive to adulthood.Children with CP have complex needs and need to be regularly assessed by a multidisciplinary team in order to target appropriate interventions. These do not alter the underlying chronic condition but can provide improvement in function and comfort, and reduce the burden of care if considered within the context of the overall needs of the child.Hip displacement is seen in up to 60–80% of severely affected children. Hip surgery is therefore unsurprisingly the second most common orthopaedic intervention in children with CP. Surveillance of at risk populations is now well established.Setting functional goals and assessing outcomes of any intervention is necessary, with medical, anaesthetic, nursing and therapy components all contributing significantly to the positive outcome if surgery is deemed necessary. Any surgical intervention in a child with CP should always be a process rather than a discrete event.     

Osteoporosis in children with neuromuscular diseases and inborn errors of metabolism

The effects on bone of cerebral palsy (CP), Duchenne's muscular dystrophy and different metabolic diseases are reviewed from the literature. Children affected with neuromuscular diseases and inborn errors of metabolism may develope osteoporosis. Mechanical stimulation is paramount for bone strengthening, and immobilization is a well-known cause of osteoporosis. CP is the most common cause of disability in pediatrics. The main cause of low bone density in children and adolescents with CP and muscular dystrophy is lack of activity, but nutritional issues and pharmacological treatments can contribute to the clinical picture. Programs to exert mechanical stimulation of their bones are warranted, as much as nutritional programs. Treatment with bisphosphonates shows promising results in this population. The term 'inborn errors of metabolism' comprise a large list of defects in the metabolism of amino acid transport and metabolism of peptides, carbohydrates, vitamins, minerals, and fatty acids. Other disorders included are errors in mitochondrial energy metabolism, problems with biosynthesis and breakdown of complex molecules, and neurotransmitter defects. Low bone density and fractures in these patients may be consequence of immobilization and muscle weakness, but also of treatments (e.g. steroids, dietary restrictions), and the primary disease. Adequate control of the primary disease is paramount to prevent bone problems.     

Clinical practice

Cerebral palsy (CP) is the most common physical disability in early childhood. The worldwide prevalence of CP is approximately 2–2.5 per 1,000 live births. It has been clinically defined as a group of motor, cognitive, and perceptive impairments secondary to a non-progressive defect or lesion of the developing brain. Children with CP can have swallowing problems with severe drooling as one of the consequences. Malnutrition and recurrent aspiration pneumonia can increase the risk of morbidity and mortality. Early attention should be given to dysphagia and excessive drooling and their substantial contribution to the burden of a child with CP and his/her family. This review displays the important functional and anatomical issues related to swallowing problems in children with CP based on relevant literature and expert opinion. Furthermore, based on our experience, we describe a plan for approach of investigation and treatment of swallowing problems in cerebral palsy.     

Vaginal bleeding in the pre-pubertal child

Vaginal bleeding is a rare presenting complaint in pre-pubertal girls which can cause a lot of anxiety in parents and carers. The differential diagnoses range from relatively simple conditions such as vulvovaginitis to more sinister conditions including malignant vulval tumours or child sex abuse. A detailed clinical review is required in making a diagnosis and planning treatment. This review article will provide an overview of the most likely differential diagnosis and suggests an approach to assessment and management for the general paediatrician.     

Exploring the clinical utility of the Development And Well-Being Assessment (DAWBA) in the detection of hyperkinetic disorders and associated diagnoses in clinical practice

Background:  The clinical diagnosis of ADHD is time-consuming and error-prone. Secondary care referral results in long waiting times, but primary care staff may not provide reliable diagnoses. The Development And Well-Being Assessment (DAWBA) is a standardised assessment for common child mental health problems, including attention deficit/hyperactivity disorder (ADHD), which can be rapidly scored by skilled specialist clinicians, who may be remote from the interview, thus avoiding referral.
Method:  A representative clinic sample of routine cases suspected of ADHD underwent an assessment which included the DAWBA alongside a confirmatory assessment with a skilled clinician. Another clinician provided DAWBA-based diagnoses blind to the clinic view. Bayesian statistical modelling was used to include clinic diagnostic uncertainty in the analyses.
Results:  Eighty-four cases were assessed. For ADHD, the predictive value of a positive or negative DAWBA diagnosis was greater than .8, with negligible bias. Non-hyperkinetic behaviour disorders had higher, emotional and autistic disorders lower predictive values, though all greater than .75: there was, however, evidence of bias.
Conclusions:  Diagnoses of ADHD based on senior clinician review of the DAWBA completed by parents, teachers and young people aged 11 plus may be sufficiently accurate to permit clinical diagnosis without direct patient contact by the diagnosing clinician. This could improve access to accurate diagnoses of ADHD in primary care while freeing up senior clinicians to focus on complex and refractory cases in secondary care.     

Limp

Limping is never normal, and few parents tolerate the problem long before seeking medical consultation. However, the conditions that may produce a limp are legion and run the gamut from a stone in the shoe to the first manifestation of malignant neoplasm or chronic renal disease. As a consequence, one must have an orderly approach to diagnosis. Many of the problems that cause the child to limp are presented, but this article is concerned with an overview of the problem, differential diagnosis, and suggested steps in evaluating the child who limps.     

Dopamine and serotonin transporter genotypes moderate sensitivity to maternal expressed emotion: the case of conduct and emotional problems in attention deficit/hyperactivity disorder

Background:  Mothers' positive emotions expressed about their children with attention deficit/hyperactivity disorder (ADHD) are associated with a reduced likelihood of comorbid conduct problems (CP). We examined whether this association with CP, and one with emotional problems (EMO), is moderated by variants within three genes, previously reported to be associated with ADHD and to moderate the impact of environmental risks on conduct and/or emotional problems; the dopamine transporter gene (SLC6A3/DAT1), the dopamine D4 receptor gene (DRD4) and the serotonin transporter gene (SLC6A4/5HTT).
Methods:  Seven hundred and twenty-eight males between the ages of 5 and 17 with a DSM-IV research diagnosis of combined type ADHD were included in these analyses. Parents and teachers rated children's conduct and emotional problems. Positive maternal expressed emotion (PMEE) was coded by independent observers on comments made during a clinical assessment with the mother based on current or recent medication-free periods.
Results:  Sensitivity to the effects of PMEE on CP was moderated by variants of the DAT1 and 5HTT genes. Only children who did not carry the DAT1 10R/10R or the 5HTT l/l genotypes showed altered levels of CP when exposed to PMEE. The effect was most marked where the child with ADHD had both these genotypes. For EMO, sensitivity to PMEE was found only with those who carried the DAT1 9R/9R. There was no effect of DRD4 on CP or EMO.
Conclusion:  The gene–environment interactions observed suggested that genetic make-up can alter the degree of sensitivity an ADHD patients has to their family environment. Further research should focus on distinguishing general sensitivity genotypes from those conferring risk or protective qualities.     

Applications of Telemedicine in Child Abuse Pediatrics

Child abuse is a common and morbid condition that is frequently identified in the emergency department, but emergency departments far outnumber specialized child abuse pediatricians. The small size and slow growth of child abuse as a specialty requires innovative approaches to ensure that specialized services are available to all children who may have been abused.This review covers the history and core concepts of telemedicine in child abuse pediatrics, highlighting services including live patient visits, advice and consultation, and retrospective peer review. We describe a deliberate approach to establishing a telemedicine program. Training and practice help establish new competencies in this form of medicine. Evaluation and sound business planning lead to sustainable and positive change. We also discuss challenges unique to child abuse telemedicine including confidentiality, security, provider engagement, and specialized training.Child abuse is a common and pervasive problem whereas child abuse pediatricians are both few and far between. Telemedicine may provide a solution to problems of availability and distribution within our specialty.     

Disorders of phonation in children

Vocal disturbances in children are surprisingly common. Typical pathologic conditions differ, however, from those that are seen commonly in adults. Disturbances in the vibratory characteristic of the vocal folds cause dysphonia. The most common causes for dysphonia are infectious, anatomic, congenital, inflammatory, neoplastic, neurologic, or iatrogenic in nature. A child who presents with hoarseness demands a rapid and thorough assessment. Fine points during the history may provide the clinician with clues as to the correct etiologic category. Proper treatment requires an accurate diagnosis. Although some conditions are similar in the adult larynx, treatment of the pediatric larynx often differs. An understanding of the changing and growing pediatric larynx is necessary for treatment and satisfactory results.     

Review for the generalist: evaluation of pediatric hip pain

Hip pathology may cause groin pain, referred thigh or knee pain, refusal to bear weight or altered gait in the absence of pain. A young child with an irritable hip poses a diagnostic challenge. Transient synovitis, one of the most common causes of hip pain in children, must be differentiated from septic arthritis. Hip pain may be caused by conditions unique to the growing pediatric skeleton including Perthes disease, slipped capital femoral epiphysis and apophyseal avulsion fractures of the pelvis. Hip pain may also be referred from low back or pelvic pathology. Evaluation and management requires a thorough history and physical exam, and understanding of the pediatric skeleton. This article will review common causes of hip and pelvic musculoskeletal pain in the pediatric population.     

Managing an acute abdomen

The acute abdomen is often a diagnostic challenge, particularly in the young child. An initial assessment of vital signs and fluid resuscitation are pivotal in management, whatever the cause. Careful attention to fluid maintenance, and assessment and replacement of ongoing losses optimize operative intervention if required and preserve haemodynamic stability. Laboratory and radiological tests are useful adjuncts, but history taking, careful examination and re-examination are the mainstays in decision making. A useful scheme for classifying acute abdominal conditions is to consider whether they result from irritation of the peritoneum or obstruction (although these may coexist), arising de novo or as a result of trauma.     

How to assess tall stature

Tall stature, above 98th centile for height, and greater than 2SD above mean, in most cases is familial. The mid-parental centile should always be evaluated. Other common causes are obesity or early normal puberty, but precocious puberty should be excluded in every child. Precocious puberty, hyperthyroidism and GH excess will cause rapid height velocity at any age and needs appropriate management. Where height centile exceeds mid-parental centile prediction, look for genetic syndromes, metabolic conditions and sex chromosome abnormalities. Constitutional tall stature i.e. physiologically normal advanced growth and development is a diagnosis of exclusion and treatment is rarely required. Treatment options include early and accelerated induction of pubertal development with a physiological sex hormone regimen, or epiphysiodesis, but need to be considered before puberty onset. High dose sex steroids are no longer indicated.     

Sleep Problems in Children: A Guide for Primary Care Physicians

Sleep problems are commonly encountered in children with a prevalence of 20–42 %. Sleep problem usually entails a sleep pattern that is unsatisfactory or cause of concern to the parent, child or physician. Children present to primary care physicians or pediatricians with mainly three types of sleep related problems—first group has disorders of initiating and maintaining sleep (dyssomnias); second category (hypersomnias) is characterized by excessive sleepiness and third section represents abnormal activity or behavior during sleep, also classified as parasomnias. Evaluation of a child with sleep problem involves a comprehensive sleep history followed by detailed medical, developmental and behavioral history. One simple sleep screening tool used for evaluation of sleep in children—BEARS (B is bed time problems, E is excessive day time sleepiness, A is awakenings during the night, R is regularity as well as duration of sleep, and S is snoring) has been discussed. This article discusses common sleep problems observed in different age groups starting right from neonatal to the adolescent period followed by management strategies to optimize outcome of sleep in children.