Early manifestations of autism spectrum disorders. Experience of 393 cases in a paediatric neurology.

INTRODUCTION: Autism spectrum disorders are group of conditions characterised by qualitative impairments in social communication, interaction, and imagination, and by a restricted range of interests and typical repetitive behaviours. Frequently, there is a delay in the age of detection, and therefore in starting multidisciplinary evaluations and interventions, which may result in a poorer prognosis and reduced quality of life for both children and parents. The aim of our study was to describe clinical and epidemiological data including the age of detection and main initial complaints present in children with autism disorders referred to a paediatric neurology centre. PATIENTS AND METHODS: A total of 393 medical records of consecutive cases diagnosed with an autism spectrum disorder were reviewed. RESULTS: Autism was diagnosed in 82.1% of the cases, unspecified pervasive disorder in 9.9%, Asperger syndrome in 4.8%, and Rett syndrome in 3%. Sixty percent of autistic children presented with a language disorder as their main complaint. The average age of detection was 4 years. CONCLUSIONS: Compared with other countries, age of detection is delayed. Primary care-based screening and surveillance are required in order to improve prognosis and quality of life of children with an autism spectrum disorder.

[Gilles de la tourette syndrome: clinical spectrum and management]. / Sindrome de Gilles de la Tourette: espectro clínico y tratamiento.

OBJECTIVE: To present the current concepts of the clinical phenomenology and natural history of Gilles de la Tourette syndrome (GTS), differential diagnosis with other involuntary movements, its pathogenesis and current management. DEVELOPMENT: GTS is a disorder characterized by a spectrum of both motor and sonic tics, and a spectrum of behavioral disorders. There is not a biological marker that confirms or refutes the diagnosis of GTS, so this diagnosis remains purely clinical. It has been found to be present in 1 to 3% of school population. An specific cause for GTS is unknown, though most cases appear to occur on an hereditary polygenetic basis. Observations that drugs increasing dopamine neurotransmission, including levodopa and the dopamine receptor agonist pergolide lessen tics, have called into question the dopamine receptor supersensibility hypothesis. The hypothesis proposing basal ganglia and frontostriatal pathways involvement in the pathophysiology of the disorder is the most likely. Frequently, disruption due to tics is overshadowed by comorbid conditions, like obsessive compulsive behaviors, attention deficit hyperactivity disorder, other behavioral disorders and learning disabilities, so the management should be targeted to them. CONCLUSION: The knowledge about the basic mechanisms and the integral definition of the clinical spectrum of tics and neurobehavioral manifestations, and its natural history in a patient with GTS, allow us to establish a more rational approach for management and prognosis

[Prevention of mental retardation]. / Prevención del retraso mental.

OBJECTIVE: To present within the general field of the conditions causing mental retardation, the preventive strategies for specific application available at the present time. DEVELOPMENT: In spite of the fact that in the majority of cases of mental retardation the etiology is unknown, and for that reason, in them it is not possible to establish preventive strategies, within the last three decades, important research advances have helped to prevent thousands of cases of mental retardation of illnesses caused by Haemophilus influenzae B, measles encephalitis, Rh disease and severe jaundice in newborn infants, congenital hypothyroidism, phenylketonuria and congenital rubella; as well as removing lead from the environment, intervention programs for the proper use of seat belts, child safety seats, and motorcycle and bicycle helmets; early and adequate prenatal care, dietary supplementation with folic acid beginning before conception to reduce the risk of neural tube defects, avoidance of toxic substances during pregnancy like alcohol, and the use of newborn screening tests. CONCLUSION: The primary and secondary prevention of conditions that cause mental retardation continue being a challenge. Require of a review of the present strategies, that frequently inform about the problem, but are not practice in an every day bases (ej. intake of alcohol during pregnancy, the universal use of seat belt and child safety seats during automobile travel). In the future we may have the possibility of prenatal gene therapy.

Prevención del retraso mental / Prevention of mental retardation

Objetivo. Presentar, dentro del ámbito general de las patologías causantes de retraso mental, las estrategias de prevención de aplicación específica, disponibles en la actualidad. Desarrollo. A pesar de que en la mayoría de los casos de retraso mental se desconoce su origen y, por tanto, en ellos no se pueden desarrollar estrategias para su prevención, durante las últimas tres décadas importantes avances en la investigación han servido para prevenir miles de casos de retraso mental en enfermedades causadas por Haemophilus influenza B, encefalitis por sarampión, isoinmunización por Rh, ictericia grave en recién nacidos, hipotiroidismo congénito, fenilcetonuria y rubéola congénita. También se verifican avances con la eliminación de plomo del ambiente, el empleo de cinturón de seguridad y de portabebés de seguridad en los asientos de los automóviles, de cascos para montar en motocicleta y en bicicleta; la atención y el cuidado prenatal temprano, el empleo de ácidofólico desde antes de la concepción para reducir el riesgo de defectos del tubo neural, la eliminación de sustancias tóxicas durante el embarazo como el alcohol, y el empleo de pruebas de tamizaje neonatal. Conclusiones. La prevención primaria o secundaria de las patologías que causan retraso mental continúa siendo un desafío. Requiere una revisión de las estrategias utilizadas, que informan pero no son realidad en la práctica diaria (ej, la ingesta de alcohol durante el embarazo, el empleo universal del cinturón de seguridad y portabebés adecuados para asientos de automóviles). En un futuro próximo podríamos tener la posibilidad de terapia prenatal de genes (AU)

[Clinical treatment (non surgical) of spasticity in cerebral palsy]. / Tratamiento clínico (no quirúrgico) de la espasticidad en parálisis cerebral.

OBJECTIVE: A review about the procedures used in the non surgical management of spasticity in children with cerebral palsy. DEVELOPMENT: Therapeutic modalities for the management of spasticity in cerebral palsy include: (1) elimination of factors aggravating spasticity: pain, fatigue, stress, excitement, cold, illness, sleep disturbance, immobility, and hormonal changes; (2) rehabilitative therapies, there are four major groups: (a) biomechanical approach, (b) neurophysiologic approach, (c) developmental approach and (d) sensory approach; (3) orthosis; (4) oral pharmacotherapy: baclofen, tizanidine, diacepam and dantroleno; (5) chemical denervation: phenol injections and botulinum toxin injections. The medical management of spasticity in cerebral palsy is based on: 1. Oral pharmacotherapy: (a) baclofen, binds GABAB receptors of spinal interneurons presynaptically, inhibits release of excitatory neurotransmitters in the spinal cord; (b) tizanidine, binds alfa 2 adrenergic receptors presinaptically, inhibits release of excitatory neurotransmitters in the spinal cord; (c) diacepam, augments GABA mediated inhibition in the spinal cord and supraspinally;(d) dantrolene, inhibits release of calcium from sarcoplasmic reticulum in muscle, weakens muscle contraction in response to myofiber excitation. 2. Chemical denervation: (a) phenol injection perineurally or into the motor point disrupts efferent signals from hyperexcitable anterior horn cells causing necrosis of axons or muscle; (b) botulinum toxin injection in selected muscles blocks the release of acetylcholine presynaptically and weakens the force of muscle contraction produced by hyperexcitable motoneurons. CONCLUSIONS: At the present time, there is not irrefutable evidence of a sustain benefit of physical rehabilitation in the management of spasticity. There are few studies with oral pharmacological agents involving children with cerebral palsy to define its role. On the other hand, botulinum toxin A is effective, well tolerated, and safe in the treatment of spasticity in children with cerebral palsy.

[Treatment of spasticity in cerebral palsy with botulinum toxin]. / Tratamiento de la espasticidad en parálisis cerebral con toxina botulínica.

OBJECTIVE: A review of the pathophysiological and developmental basis, measurement scales and the usefulness of botulinum toxin A injections in selected muscles for the treatment of spasticity in children with cerebral palsy. DEVELOPMENT: Cerebral palsy is the most common cause of spasticity in children. The increase in muscle length is achieved through the addition of sarcomeres in series at the level of the muscle tendinous junction. The regulation of the number of sarcomeres seems to be determined by the lengthening of the muscle. The muscle contracture is a shortening of the length of a muscle as a result of a decrease in the number of sarcomeres. Spasticity and motor function assessment scales used in children with cerebral palsy: a) Modified Ashworth scale for the assessment of spasticity; b) modified Tardieu scale for the assessment of dynamic muscle length; c) muscle spasms frequency scale; d) modified Medical Research Council scale for muscle strength; e) hip adductor muscle tone scale; f) global pain scale with affective facial expression represented in a drawing; g) goniometric measurement of the joint range of movement; h) Palisano gross motor function measure; i) observational video gait analysis scale. Recommended guidelines for dosing the botulinum toxin A: 1. Total maximum dose administered per visit up to 15 U/kg or a total of 400 U; 2. Dose range of large muscles 3 to 6 U/kg per visit; 3. Dose range of small muscles 1 to 3 U/kg per visit; 4. Maximum dose per injection site: 50 U dividing the total planned unit dose/muscle into equal amounts/injection site; 5. Frequency: no more than one injection every 3 months, frequently once every 6 or more months. CONCLUSION: Botulinum toxin A injection is a well tolerated, safe and effective procedure in the treatment of children with spastic cerebral palsy.

Tratamiento clínico (no quirúrgico) de la espasticidad en la parálisis cerebral / Clinical treatment (non surgical) of spasticity in cerebral palsy

Objetivo. Revisar los procedimientos empleados en el manejo no quirúrgico de la espasticidad en niños con parálisis cerebral. Desarrollo. Las modalidades terapéuticas para el manejo de la parálisis cerebral incluyen: 1. Eliminación de los factores agravantes de la espasticidad: dolor, fatiga, estrés, excitación, frío, enfermedad, trastornos del dormir, inmovilidad y cambios hormonales; 2. Terapias rehabilitadoras: enfoque biomecánico, enfoque neurofisiológico, enfoque del desarrollo y enfoque sensorial; 3. Ortosis; 4. Farmacoterapia oral: baclofeno, tizanidina, diacepam y dantroleno; 5. Denervación química: inyecciones de fenol e inyecciones de toxina botulínica. El manejo médico de la espasticidad en parálisis cerebral se basa en: a) La farmacoterapia oral: baclofeno, se une a los receptores GABAB de las interneuronas espinales presinápticas, inhibe la liberación de neurotransmisores excitatorios de la medula espinal; tizanidina, se une a los receptores presinápticos alfa-2-adrenérgicos, inhibe la liberación de neurotransmisores excitatorios en la medula espinal; diacepam, que aumenta la inhibición mediada por el GABA en la medula espinal y supraespinalmente, y dantroleno, que inhibe la liberación del calcio de retículo sarcoplasmático en el músculo y debilita la contracción muscular en respuesta a la excitación miofibrilar. b) Denervación química: la inyección de fenol perineuralmente o en los puntos motores en el músculo bloquea las señales eferentes de las células hiperexcitables de las astas anteriores de la médula espinal al causar necrosis de los axones o del músculo; la inyección de toxina botulínica en músculos seleccionados bloquea la liberación de acetilcolina a nivel presináptico y debilita la fuerza de contracción muscular causada por neuronas motoras hiperexcitables. Conclusiones. Hasta el momento no existe evidencia irrefutable del beneficio sostenido de la rehabilitación física para el manejo de la espasticidad. Son pocos los estudios que existen de agentes farmacológicos en que se incluyan niños con parálisis cerebral para definir su papel. Por otro lado, la toxina botulínica tipo A ha demostrado ser eficaz, bien tolerada y segura en el tratamiento de la espasticidad en niños con parálisis cerebral (AU)

Objective. A review about the procedures used in the non surgical management of spasticity in children with cerebral palsy. Development. Therapeutic modalities for the management of spasticity in cerebral palsy include: (1) elimination of factors aggravating spasticity: pain, fatigue, stress, excitement, cold, illness, sleep disturbance, immobility, and hormonal changes; (2) rehabilitative therapies, there are four major groups: (a) biomechanical approach, (b) neurophysiologic approach, (c) developmental approach and (d) sensory approach; (3) orthosis; (4) oral pharmacotherapy: baclofen, tizanidine, diacepam and dantroleno; (5) chemical denervation: phenol inyections and botulinum toxin inyections. The medical management of spasticity in cerebral palsy is based on: 1. Oral pharmacotherapy: (a) baclofen, binds GABAB receptors of spinal interneurons presynaptically, inhibits release of excitatory neurotransmitters in the spinal cord; (b) tizanidine, binds alfa2adrenergic receptors presinaptically, inhibits release of excitatory neurotransmitters in the spinal cord; (c) diacepam, augments GABAmediated inhibition in the spinal cord and supraspinally;(d) dantrolene, inhibits release of calcium from sarcoplasmic reticulum in muscle, weakens muscle contraction in reponse to myofiber excitation. 2. Chemical denervation: (a) phenol inyection perineurally or into the motor point disrupts efferent signals from hyperexcitable anterior horn cells causing necrosis of axons or muscle; (b) botulinum toxin inyection in selected muscles blocks the release of acetylcholine presynaptically and weakens the force of muscle contraction produced by hyperexcitable motoneurons. Conclusions. At the present time, there is not irrefutable evidence of a sustain benefit of physical rehabilitation in the management of spasticity. There are few studies with oral pharmacological agents involving children with cerebral palsy to define its role. On the other hand, botulinum toxin A is effective, well tolerated, and safe in the treatment of spasticity in children with cerebral palsy

[Controversial or arguable therapies in neurodevelopmental disorders]. / Terapias de controversia o polémicas en los trastornos del neurodesarrollo.

OBJECTIVE: To analyze the therapies and methods not scientifically documented that more frequently are offer and used for the treatment of neurodevelopmental disorders. DEVELOPMENT: These therapies are divided into three main groups: a) Therapies directed upon brain functioning; b) Therapies directed upon nutritional needs, and c) Others. Parents and close relatives of children with developmental disorders are vulnerable to any person, institution or method that offers a quick and easy solution to their problem. It is a priority that all health professionals are familiar with the unproven therapies, that are offered for the therapy of developmental disorders, so that they can inform, educate and advise correctly to parents and close relatives of their patients. To deal with unproven treatments involves more than analyzing the available scientific data. It is required a comprehension and understanding of the personal and family dynamics in front of a threat of illness or disfunction. CONCLUSION: Responsible and well informed parents in relation to an unproven therapy should be free and have the right to decide whether or not to use a controversial procedure prior to a scientific determination of its validity; they also must keep in mind that at least some procedures, beside of not been useful, could be harmful for the physical, emotional and economical well-being of the patient and/or his family.

Terapias de controversia o polémicas en los trastornos del neurodesarrollo / Polemic or controversial therapies in the neurodevelopmental disorders

Objetivo. Analizar las terapias y métodos no documentados científicamente que se ofrecen y utilizan más frecuentemente para el tratamiento de los trastornos del neurodesarrollo. Desarrollo.Estas terapias se pueden dividir en tres grandes grupos: a) Terapias dirigidas al funcionamiento cerebral; b) Terapias dirigidas a los requerimientos nutricionales, y c) Otras. Los padres y familiares de niños con trastornos del neurodesarrollo son vulnerables ante cualquier persona, institución o método que les ofrezca una solución rápida y fácil a su problema. Es primordial que todos los profesionales de la salud estemos familiarizados con las terapias no documentadas científicamente que se ofrecen para el tratamiento de los trastornos del neurodesarrollo, para poder informar, educar y asesorar correctamente a los padres y familiares de nuestros pacientes.El lidiar con tratamientos no comprobados científicamente implica mucho más que sólo el análisis de la información científica disponible. Se requiere de la comprensión y entendimiento de la dinámica personal y familiar ante la amenaza de enfermedad o disfunción.Conclusión. Los padres responsables y debidamente informados respecto a una estrategia de tratamiento no respaldada por la investigación formal tienen la libertad y el derecho de decidir si emplean o no dicho procedimiento antes de que se haya determinado su utilidad científicamente, pero deberán ser conscientes de que algunos procedimientos, además de no ser útiles, podrían tener un efecto nocivo para la salud física, emocional y económica del paciente y/o su familia (AU)

[The clinical phenomenology of Rett's syndrome]. / Fenomenología clínica del síndrome de Rett.

The work was done to facilitate the clinical diagnosis and understanding of Rett syndrome (RS) by grouping the symptoms and signs in areas of neurological disfunction. This is a retrospective, longitudinal and observational study of 30 young females whose clinical manifestations were grouped using a modified Fitzgerald et al. scale for motor and behavior evaluation of patients with RS. All patients were videotaped at least during one or several appointments during their follow-up for a period of 1 to 10 years. All patients and videotapes were reviewed independently by the three authors. We followed the clinical diagnostic criteria of classic RS, and grouped the symptoms and signs in 12 groups of clinical phenomenology that represented specific areas of central or peripheral nervous system involvement: 1) dementia syndrome (fronto-temporo-parietal and limbic dysfunction); 2) extrapyramidal syndrome (basal ganglia dysfunction); 3) respiratory function disorders (brain stem reticular system disfunction); 4) sleep disorders (reticular system and limbic dysfunction); 5) epilepsy (cortico-subcortical paroxysmal bioelectrical dysfunction); 6) lower motor neuron syndrome (neuropathic dysfunction and/or peripheral neuropathy); 7) body growth retardation; 8) tonic-postural skeletal deformities; 9) deficit of pain sensation (nociceptive deficit); 10) pseudobulbar dysfunction; 11) autonomic dysfunction and 12) others (microcephaly and bruxism). In clinical practice, we recommend the use of this grouping of symptoms and signs because it makes facilities the clinical study, definition of areas of dysfunction and diagnosis of the patient with RS.