RESUMEN
Recently, social anxiety disorder (SAD) and paranoia have been demonstrated to be closely related. However, data were primarily drawn from adult community samples or patients with schizophrenia. The present study used a cross-sectional design to evaluate a sample of adolescents with SAD (n = 30, mean age 15.3 ± 0.9 years) compared with an age- and sex-matched group of healthy controls (n = 26, mean age 15.9 ± 1.6 years). The SAD group displayed more frequent and intense paranoid thoughts than the control group (t = 4.16, p < 0.001). The level of paranoid thoughts was significantly predicted by the degree of social phobia, even after adjusting for sex and other anxiety disorders, although adjusting for depression slightly reduced the extent and significance of the prediction. A lack of awareness about the association between SAD and paranoia may lead to incorrect diagnoses (e.g. misdiagnosis of psychotic disorders), or it may negatively influence the (psycho)therapeutic process and patient outcomes.
Asunto(s)
Trastornos de Ansiedad , Depresión , Trastornos Paranoides , Fobia Social , Adolescente , Factores de Edad , Trastornos de Ansiedad/diagnóstico , Trastornos de Ansiedad/epidemiología , Trastornos de Ansiedad/psicología , Estudios Transversales , Depresión/diagnóstico , Depresión/psicología , Femenino , Humanos , Italia/epidemiología , Masculino , Trastornos Paranoides/diagnóstico , Trastornos Paranoides/psicología , Fobia Social/diagnóstico , Fobia Social/psicología , Escalas de Valoración Psiquiátrica , Procesos Psicoterapéuticos , Factores Sexuales , Medio Social , Estadística como AsuntoRESUMEN
BACKGROUND: To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. METHODS: Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types of childhood-onset refractory epileptic encephalopathies other than Lennox-Gastaut syndrome, were treated with rufinamide as adjunctive drug for a mean period of 11.4 months (range 3-26 months). RESULTS: Fifteen of 38 patients (39.5%) had a ≥ 50% seizure reduction in countable seizures. Complete seizure freedom was achieved in one of these patients (2.6%). Three patients (7.9%) had a 25-49% seizure reduction, whilst seizure frequency remained unchanged in 15 (39.5%) and increased in five patients (13.1%). Eleven patients (28.9%) reported adverse side effects. Vomiting was reported in five patients (13.1%); drowsiness, decreased appetite and irritability with migraine manifested in other four patients. They were transient and mild in all cases. CONCLUSION: Rufinamide may be an effective and well-tolerated adjunctive drug for the treatment of refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Rufinamide was most effective in patients with drop-attacks and (bi)frontal spike-wave discharges.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Triazoles/uso terapéutico , Adolescente , Adulto , Encefalopatías/complicaciones , Encefalopatías/tratamiento farmacológico , Niño , Preescolar , Epilepsia/etiología , Femenino , Humanos , Masculino , Adulto JovenRESUMEN
OBJECTIVE: The aim of this study was to assess how the ketogenic diet influences the blood levels of antiepileptic drugs in the first month of treatment in a pediatric population with drug-resistant epilepsy. METHODS: The plasma concentrations of antiepileptic drugs were investigated in an open study on 36 consecutive children and adolescents (20 males), aged between 6 months and 16 years (mean age 4.7 years), who were put on the ketogenic diet because of medically refractory epilepsy. The plasma levels of antiepileptic drugs were determined 30 days and immediately before the diet and on days 8, 15, 22 and 29 after the start of the diet. The daily dose of each drug was not changed during the first month of treatment, while the daily dose of benzodiazepines was reduced by up to 30% if excessive sedation or drowsiness occurred. RESULTS: While plasma concentrations of phenobarbital did not change in the first month on the ketogenic diet (mean increase of 2.3 mg/l ± 1.0), valproic acid showed a slight but not significant decrease (mean decrease of 6.7 mg/l ± 3.2), 2 weeks after the start of the diet. CONCLUSIONS: Adjustments in the daily dose of either drug before the start of the diet do not however appear to be justified.
Asunto(s)
Dieta Cetogénica , Epilepsia/dietoterapia , Epilepsia/tratamiento farmacológico , Fenobarbital/sangre , Ácido Valproico/sangre , Adolescente , Anticonvulsivantes/sangre , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Terapia Combinada , Epilepsia/sangre , Femenino , Humanos , Lactante , Masculino , Fenobarbital/uso terapéutico , Estadísticas no Paramétricas , Resultado del Tratamiento , Ácido Valproico/uso terapéuticoRESUMEN
Aim of our study is to verify the association between the genetic predisposition to hyperinsulinism due to the presence of the insulin gene (INS) I/I genotype and the development of sleep-related breathing disorders (SRBD) in obese children and adolescents. Two hundred and fifty-six obese children and adolescents (125 girls) have been investigated. As initial screening all subjects' mothers filled out the Sleep Disturbances Scale for Children (SDSC). The Sleep-Disordered Breathing (SDB) scale has been taken into account. Successively, a subgroup of 34 patients belonging to the first (14 children) and the last (20 children) SDB score quintiles underwent an overnight polysomnography and the apnea-hypopnea index (AHI) was evaluated. All subjects were genotyped for the INS VNTR and fasting insulin levels were evaluated. The population was divided into two groups according to the genotype: the first group was comprehensive of patients homozygotes for class I allele and the second group was composed by class III allele heterozygotes and homozygotes patients. Subjects I/I showed statistically signifIcant higher insulin levels (p<0.001) and SDB scores (p<0.001). Moreover, in the subgroup of patients investigated with polysomnography, class I homozygous subjects showed higher AHI compared to those patients carrying class III allele (p<0.001). Our data support the hypothesis that INS VNTR is associated with the development of SDB among obese children and adolescents.
Asunto(s)
Insulina/genética , Repeticiones de Minisatélite , Obesidad/genética , Síndromes de la Apnea del Sueño/genética , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , PolisomnografíaRESUMEN
Rheological and erosion studies regarding a liposome-containing polymeric blend that is propaedeutic to its use in paving techniques in tubular organs, such as blood vessels, are reported. Attention is focused on an aqueous polymeric blend composed of Pluronic (PF127) and alginate (Protanal LF 10/60) because both polymers, when dissolved in water at a sufficiently high concentration, are subjected to different structural mechanisms, which are driven by temperature increase and addition of bivalent cations, respectively, and both result in marked viscoelastic and plastic properties. After proving the compatibility between PF127 and alginate, we show that the structural transition temperature of the blend, T(ST), can be properly modulated. In particular, we found that T(ST) for an aqueous solution of pure Pluronic 20% w/w is about 21 degrees C and that even slight reductions in polymer concentration result in considerable T(ST) decrease. The addition of salts or alginate (provided as Na-alginate) provokes a substantial decrease of T(ST) and thus the alginate concentration in the blend should not exceed 1% w/w. In addition, liposomes slow down the structural transition but do not substantially affect the rheological properties of the system in the final state at higher temperatures, thus showing that they can be added to the polymeric blend without significant effects. Finally, erosion tests show that after contact with a source of bivalent cations, the polymeric blend containing PF127 and alginate shows an erosion resistance neatly improved with respect to the simple structured Pluronic system having the same polymer concentration. As a whole, all these results constitute the basis for future potential applications of the considered polymeric blend in tubular organs such as blood vessels.
Asunto(s)
Alginatos/química , Materiales Biocompatibles/química , Sistemas de Liberación de Medicamentos , Liposomas/química , Poloxámero/química , Agua/química , Ácido Glucurónico/química , Ácidos Hexurónicos/química , Reología , Temperatura , ViscosidadRESUMEN
The aim of this multicentric, prospective and uncontrolled study was to evaluate the efficacy and safety of levetiracetam in 110 children with refractory epilepsy, of whom 21 were less than 4 years old. After a median follow-up period of 7 months, levetiracetam administration was effective (responders with >50% decrease in seizure frequency) in 39% of children, of whom 10 (9%) became seizure-free. The efficacy was higher in patients with localization-related epilepsy (58% of responders) than in those with generalized epilepsy (37% of responders). Levetiracetam was well tolerated. The main side effects of somnolence and irritability occurred in 14% of patients. In one patient acute choreoathetosis occurred after few doses of levetiracetam. Overall, the adverse effects were not severe. Children younger than 4 years were particularly tolerant. In conclusion, the present study confirms that levetiracetam is effective and well tolerated as an add-on treatment in children with refractory epilepsy. Our preliminary data also indicate that levetiracetam may be a valid therapeutic option for epilepsy in infants and young children.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Evaluación de Medicamentos , Epilepsia/tratamiento farmacológico , Piracetam/análogos & derivados , Piracetam/uso terapéutico , Relación Dosis-Respuesta a Droga , Quimioterapia Combinada , Electroencefalografía , Epilepsia/clasificación , Femenino , Estudios de Seguimiento , Humanos , Lactante , Levetiracetam , Masculino , Examen Neurológico , Estudios Prospectivos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Benign familial neonatal convulsions (BFNC) is a rare autosomal inherited epilepsy. We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC. A missense mutation C686T predicting the change of one of the innermost arginine (R214W) of the key functional voltage sensor (S4 helix), has been found in all affected members. This substitution probably reduces the movement of the voltage sensor that precedes channel opening during voltage-dependent activation. Several mutations affecting the trans-membrane domain and the pore region of the K+ channels belonging to the KQT-like family have been described in some human diseases associated with altered regulation of cellular excitability (ie BFNC, some LQT syndromes and DFNA2). R214W represents the first mutation involving the region of the voltage sensor.
Asunto(s)
Epilepsia Benigna Neonatal/genética , Mutación Missense , Canales de Potasio/genética , Secuencia de Aminoácidos , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Canal de Potasio KCNQ2 , Masculino , Datos de Secuencia Molecular , Linaje , Canales de Potasio con Entrada de Voltaje , Homología de Secuencia de AminoácidoRESUMEN
We investigated the molecular basis of hyperekplexia (STHE), an inherited neurological disorder characterised by neonatal hypertonia and an exaggerated startle response, in a kindred and identified a novel missense mutation in the pore-lining M2 domain of the alpha1 subunit of the glycine receptor (GLRA1). Sequencing analysis of all exons of the GLRA1 gene revealed a G1158A base transition in affected, heterozygous patients. The base transition results in a valine to methionine substitution at codon 260 in the middle of the M2 transmembrane domain. The location within the M2 domain suggests for this substitution a likely role in altering ion channel properties.
Asunto(s)
Enfermedades del Sistema Nervioso/genética , Receptores de Glicina/genética , Secuencia de Aminoácidos , Secuencia de Bases , Sitios de Unión/genética , ADN/química , ADN/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Masculino , Proteínas de la Membrana/genética , Datos de Secuencia Molecular , Mutación Missense , Linaje , Reflejo de Sobresalto/genética , Homología de Secuencia de AminoácidoRESUMEN
We describe two children with the velocardiofacial syndrome and benign partial-onset seizures. Both presented with slight dysmorphic traits, mild to moderate mental delay, and high-arched palate. A cardiac defect was present in only one of them. In each patient, sporadic rolandic or occipital partial-onset seizures with the clinical and electroencephalographic features of benign idiopathic childhood epilepsy manifested at age 3 and 5 years, respectively. Treatment was started only in one patient, with complete seizure control. These two cases show that benign partial epilepsy can be a component manifestation of the central nervous system-related symptoms of the velocardiofacial syndrome.
Asunto(s)
Anomalías Múltiples/patología , Fisura del Paladar/patología , Epilepsias Parciales/patología , Cara/anomalías , Cardiopatías Congénitas/patología , Anomalías Múltiples/genética , Niño , Aberraciones Cromosómicas , Cromosomas Humanos Par 22/genética , Electroencefalografía , Humanos , Hibridación Fluorescente in Situ , Masculino , SíndromeRESUMEN
PURPOSE: This study was to evaluate the efficacy and safety of topiramate (TPM) in refractory partial epilepsy in children, adolescents and young adults. METHODS: We performed a prospective open label add-on study in 55 patients (age 2-30 years, mean 15 years) with refractory partial seizures. Topiramate was added to one or two other baseline drugs and the efficacy was rated according to seizure type and frequency. RESULTS: TPM was initiated at a daily dose of 0.5-1 mg/kg, followed by a 2-week titration at increments of 1-3 mg/kg/24h, up to a maximum daily dose of 12 mg/kg. After 9 months of treatment, 11 patients (20%) had 100% fewer seizures and 25 patients (45%) had a more than 50% seizure reduction. TPM appeared to be effective both in cryptogenic (76.2%) and symptomatic (58.8%) partial epilepsies. Mild to moderate adverse events were present in 25 patients (45.4%), mostly represented by drowsiness, nervousness and hyporexia with or without weight loss. CONCLUSION: TPM was an overall effective and safe add-on drug both in cryptogenic and symptomatic childhood refractory partial seizures, the adverse reactions being generally mild or moderate.
Asunto(s)
Epilepsias Parciales/tratamiento farmacológico , Fructosa/administración & dosificación , Fármacos Neuroprotectores/administración & dosificación , Adolescente , Adulto , Niño , Preescolar , Femenino , Fructosa/análogos & derivados , Humanos , Masculino , Estudios Prospectivos , Psicosis Inducidas por Sustancias/psicología , Topiramato , Pérdida de Peso/efectos de los fármacosRESUMEN
AIM: To evaluate daily tonometric curves after cataract surgery in patients with cataract only and in patients with cataract and glaucoma. METHODS: 108 patients scheduled for cataract surgery were randomly allocated to two groups: 57 patients with cataract only (normal) and 51 with cataract and primary open angle glaucoma (POAG). All patients underwent extracapsular cataract extraction (ECCE) (manual technique with long wound), phacoemulsification (automated technique with short wound), or nucleus capture (manual technique with short wound). Intraocular pressure (IOP) was measured by Goldmann tonometry in all patients every 2 hours for 12 hours before the operation and at 1 and 6 months postoperatively. RESULTS: 79 patients completed the 6 month examination. ECCE resulted in greater reductions in IOP than the other procedures (ECCE: 27% and 36% in normal patients and those with POAG, respectively; nucleus capture: 20% and 31%, respectively; phacoemulsification: 19% and 22%, respectively). The fluctuations in IOP before and after surgery were not statistically significant. CONCLUSION: Cataract surgery in normal patients reduces IOP but does not eliminate fluctuations which are directly proportional to the IOP value and result partly from circadian rhythms. This important finding might influence our approach to treatment of patients with glaucoma.
Asunto(s)
Extracción de Catarata/métodos , Catarata/complicaciones , Glaucoma de Ángulo Abierto/complicaciones , Presión Intraocular , Anciano , Anciano de 80 o más Años , Ritmo Circadiano/fisiología , Femenino , Estudios de Seguimiento , Glaucoma de Ángulo Abierto/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Facoemulsificación , Periodo Posoperatorio , Tonometría OcularRESUMEN
We report the results of an open trial with lamotrigine (LTG) as add-on drug in children and adolescents with refractory epilepsy and mental delay. Thirty-seven outpatients received LTG for a median period of 7 months at a daily dose of 5 and 15 mg/kg in valproate and non-valproate patients, respectively. The total number of seizures decreased by 100% in eight patients (21.6%) and by >50% in five patients (13.5%). However, the number of seizures remained unchanged in 20 patients (54.1%) and increased in four (10.8%). Lamotrigine was more effective in patients with typical and atypical absences, and in patients affected by atonic seizures. Six children (16.2%) developed generally mild adverse side-effects suggesting that LTG is well tolerated.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Discapacidades del Desarrollo/complicaciones , Epilepsia/tratamiento farmacológico , Triazinas/uso terapéutico , Adolescente , Adulto , Anticonvulsivantes/efectos adversos , Niño , Preescolar , Discapacidades del Desarrollo/psicología , Resistencia a Medicamentos , Quimioterapia Combinada , Electroencefalografía/efectos de los fármacos , Epilepsia/complicaciones , Epilepsia/psicología , Femenino , Humanos , Lamotrigina , Masculino , Triazinas/efectos adversos , Ácido Valproico/efectos adversos , Ácido Valproico/uso terapéuticoRESUMEN
We report the results of a double-blind, placebo-controlled cross-over trial with allopurinol as add-on therapy in childhood refractory epilepsy. Seventeen patients received allopurinol and matched placebo for 12 weeks in 2 doses (10 mg/kg/day during the first week and 15 mg/kg/day thereafter with a washout period of 2 weeks between treatment phases. The total number of seizures was reduced by 50-98% in 4 patients (23.5%) and by 25-49% in another 4 (23.5%). However, the number of seizures remained unchanged in 5 patients (29.4%) and worsened in 4 (23.5%). Adverse side effects (17.6%) were generally mild and transient, suggesting that allopurinol is well-tolerated. A mean follow-up of 10 months of the responders did not show any relevant efficacy of allopurinol as an adjuvant therapy for refractory epilepsy, even at high doses.
Asunto(s)
Alopurinol/administración & dosificación , Inhibidores Enzimáticos/administración & dosificación , Epilepsia/tratamiento farmacológico , Adolescente , Adulto , Anticonvulsivantes/administración & dosificación , Niño , Estudios Cruzados , Método Doble Ciego , Resistencia a Medicamentos , Quimioterapia Combinada , Estudios de Seguimiento , Humanos , Placebos , Ácido Úrico/sangreRESUMEN
We describe two sisters affected by pontocerebellar hypoplasia type 2 associated with microcephaly, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic seizures. Clinical and neuroradiological findings ruled out other conditions associated with pontocerebellar hypoplasia, i.e. pontocerebellar hypoplasia type 1, carbohydrate-deficient glycoprotein syndrome, and olivopontocerebellar hypoplasia/atrophy.
Asunto(s)
Cerebelo/anomalías , Cerebelo/patología , Enfermedades Neurodegenerativas/patología , Puente/anomalías , Puente/patología , Agenesia del Cuerpo Calloso , Cerebelo/fisiopatología , Corteza Cerebral/anomalías , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Preescolar , Cuerpo Calloso/patología , Cuerpo Calloso/fisiopatología , Progresión de la Enfermedad , Salud de la Familia , Resultado Fatal , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Enfermedades Neurodegenerativas/fisiopatología , Linaje , Puente/fisiopatologíaRESUMEN
Seventy-seven children and adolescents with drug-resistant epilepsies received vigabatrin as add-on therapy for a median of 18 months (range 4-36 months) at a dose of 50 mg/kg/day divided in two doses; patients with spasms were given a maximum dose of 100 mg/kg/day. In 23 patients (29.9%), seizure frequency decreased by 50-100% and in 12 patients (15.6%) by 25-50%. The number of seizures remained unchanged in 34 patients (44.1%) and increased in seven (9.1%). Vigabatrin was most effective in cryptogenic and symptomatic partial seizures (39% and 43%, respectively), and in infantile spasms (25%). Adverse events occurred in 20 patients (26%), though they were generally mild and transient, suggesting that vigabatrin is well tolerated.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Adolescente , Adulto , Anticonvulsivantes/efectos adversos , Niño , Preescolar , Resistencia a Medicamentos , Quimioterapia Combinada , Epilepsias Parciales/tratamiento farmacológico , Epilepsias Parciales/etiología , Epilepsia Generalizada/tratamiento farmacológico , Femenino , Humanos , Masculino , Mioclonía/tratamiento farmacológico , Espasmos Infantiles/tratamiento farmacológico , Vigabatrin , Ácido gamma-Aminobutírico/efectos adversos , Ácido gamma-Aminobutírico/análogos & derivados , Ácido gamma-Aminobutírico/uso terapéuticoRESUMEN
The purpose of this study was to report paradoxical reaction on the intraocular pressure after treatment with latanoprost in 3 cases of uveitic glaucoma. Serial clinical examinations of intraocular pressure by means of daily tonometric curves were performed in three patients with uveitic glaucoma before and after the beginning of latanoprost therapy. All measurements were performed by two doctors, but every patient's IOP was always measured by the same doctor. Adverse reactions, such as increased intraocular pressure and recurrence of inflammation, were noted to occur 7 to 16 days after rechallenging with topical latanoprost therapy for glaucoma in patients with history of uveitic glaucoma. The conclusion indicates that clinicians should be alerted to these possible complications of topical latanoprost therapy in uveitic glaucoma.
Asunto(s)
Antihipertensivos/efectos adversos , Glaucoma de Ángulo Abierto/tratamiento farmacológico , Presión Intraocular/efectos de los fármacos , Hipertensión Ocular/inducido químicamente , Prostaglandinas F Sintéticas/efectos adversos , Uveítis Anterior/inducido químicamente , Antihipertensivos/uso terapéutico , Femenino , Glaucoma de Ángulo Abierto/etiología , Humanos , Latanoprost , Masculino , Persona de Mediana Edad , Soluciones Oftálmicas , Prostaglandinas F Sintéticas/uso terapéutico , Tonometría Ocular , Uveítis Anterior/complicacionesRESUMEN
A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.
Asunto(s)
Aberraciones Cromosómicas/genética , Inversión Cromosómica , Cromosomas Humanos 13-15 , Diploidia , Discapacidad Intelectual/genética , Anomalías Múltiples/genética , Niño , Trastornos de los Cromosomas , Electrocardiografía , Humanos , Cariotipificación , Masculino , LinajeRESUMEN
We studied the mechanism governing the delivery of nucleic acid-based drugs (NABD) from microparticles and nanoparticles in zero shear conditions, a situation occurring in applications such as in situ delivery to organ parenchyma. The delivery of a NABD molecule from poly(DL-lactide-co-glycolide) (PLGA) microparticles and stearic acid (SA) nanoparticles was studied using an experimental apparatus comprising a donor chamber separated from the receiver chamber by a synthetic membrane. A possible toxic effect on cell biology, as evaluated by studying cell proliferation, was also conducted forjust PLGA microparticles. A mathematical model based on the hypothesis that NABD release from particles is due to particle erosion was used to interpret experimental release data. Despite zero shear conditions imposed in the donor chamber, particle erosion was the leading mechanism for NABD release from both PLGA microparticles and SA nanoparticles. PLGA microparticle erosion speed is one order of magnitude higher than that of competing SA nanoparticles. Finally, no deleterious effects of PLGA microparticles on cell proliferation were detected. Thus, the data here reported can help optimize the delivery systems aimed at release of NABD from micro- and nanoparticles.
Asunto(s)
Ácido Láctico/química , Ácido Láctico/farmacología , Miocitos del Músculo Liso/efectos de los fármacos , Nanoestructuras/química , Ácidos Nucleicos/administración & dosificación , Ácido Poliglicólico/química , Ácido Poliglicólico/farmacología , Polímeros/química , Polímeros/farmacología , Ácidos Esteáricos/química , Ácidos Esteáricos/farmacología , Células Cultivadas , Simulación por Computador , Portadores de Fármacos/química , Portadores de Fármacos/farmacología , Humanos , Ensayo de Materiales , Microesferas , Modelos Químicos , Miocitos del Músculo Liso/citología , Nanoestructuras/ultraestructura , Ácidos Nucleicos/química , Copolímero de Ácido Poliláctico-Ácido PoliglicólicoRESUMEN
We report the case of a baby with transient generalized stiffness noticeable from the first days of life, hyperreflexia, massive jerks in response to sudden tactile and acoustic stimuli, and long-lasting myoclonic jerks closely resembling epileptic seizures. The father and paternal grandfather both had hyperekplexia. At age 3 years, the child had normal psychomotor development and persistent abnormal startle response to unexpected sounds or touch.