Microstructural White Matter Abnormalities in Children and Adolescents With Narcolepsy Type 1.

Background: In 2010, the H1N1 Pandemrix vaccination campaign was followed by a sudden increase in narcolepsy type 1 (NT1). We investigated the brain white matter microstructure in children with onset of NT1 within two years after the Pandemrix vaccination.

Methods: We performed diffusion-weighted magnetic resonance imaging (MRI) on 19 children and adolescents with NT1 and 19 healthy controls.

Finnish children who experienced narcolepsy after receiving the Pandemrix vaccine during the 2009-2010 H1N1 pandemic demonstrated high level of psychosocial problems.

Aim: We assessed psychosocial burdens in children who developed narcolepsy after receiving the Pandemrix H1N1 vaccine during the 2009-2010 pandemic. Parental quality of life was also assessed.

Methods: This multicentre study covered four of the five Finnish University Hospital Districts, which dealt with about 90% of the paediatric narcolepsy cases after the Pandemrix vaccination.

Newborn Brain Function Is Affected by Fetal Exposure to Maternal Serotonin Reuptake Inhibitors.

Recent experimental animal studies have shown that fetal exposure to serotonin reuptake inhibitors (SRIs) affects brain development. Modern recording methods and advanced computational analyses of scalp electroencephalography (EEG) have opened a possibility to study if comparable changes are also observed in the human neonatal brain. We recruited mothers using SRI during pregnancy (n = 22) and controls (n = 62).

[Update on current care guidelines: appropriate treatment of medical problems associated with Down's syndrome].

The lifetime prognosis of people with Down's syndrome has improved. Development of the services that health care and society can offer to such people is ongoing. These guidelines are targeted at defining what is required to further increase the lifespan and quality-of-life of people with Down's syndrome.

Subjects with intellectual disability and familial need for full-time special education show regional brain alterations: a voxel-based morphometry study.

Subjects attending full-time special education (SE) often have multifactorial background for their cognitive impairment, and brain MRI may show nonspecific changes. As voxel-based morphometry reveals regional volume differences, we applied this method to 119 subjects with cognitive impairments and familial need for full-time SE--graded into three levels from specific disorders of cognitive processes (level 1) to intellectual disability (IQ <70; level 3)--and to 43 age-matched controls attending mainstream education (level 0). Subjects in SE groups had smaller global brain white matter (WM), cerebrospinal fluid, and total brain volume than controls.

Brain magnetic resonance imaging of siblings from families with two or more children with learning or intellectual disabilities and need for full-time special education.

Background: Several factors are involved in determining a child's need for special education (SE). Thus, the value of brain magnetic resonance imaging (MRI) for subjects with learning and intellectual disabilities is uncertain.

Purpose: To evaluate the usefulness of MRI in the diagnostic process of siblings with learning and intellectual disabilities and need for full-time SE.

Childhood growth and development associated with need for full-time special education at school age.

Objective: To explore how growth measurements and attainment of developmental milestones in early childhood reflect the need for full-time special education (SE).

Methods: After stratification in this population-based study, 900 pupils in full-time SE groups (age-range 7-16 years, mean 12 years 8 months) at three levels and 301 pupils in mainstream education (age-range 7-16, mean 12 years 9 months) provided data on height and weight from birth to age 7 years and head circumference to age 1 year. Developmental screening was evaluated from age 1 month to 48 months.

Newborns at risk for special education placement: a population-based study.

Objectives: To establish the contributions of birth weight (BW), gender, socioeconomic status (SES), and parental age on risks for special education (SE) placements in school-age children.

Methods: A population-based sample of 900 school-age children attending the following full-time SE groups: at level 1, children had isolated neurodevelopmental, physical, or other impairments; at level 2, borderline to mild intellectual disability (ID); and at level 3, moderate to severe ID. Three hundred and one children enrolled in mainstream education formed the control group (level 0).

Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.

Sleep disturbances are common in many progressive metabolic encephalopathies. The possible presence of disturbed sleep-wake behaviour in the lysosomal storage disorder aspartylglucosaminuria, has not been previously studied, however. The sleep-wake behaviour of 81 patients with aspartylglucosaminuria (AGU, age 3-55 years, median 22 years; 42 female and 39 male) and 49 controls (age 2-57 years, median 18 years; 25 female and 24 male) was assessed through a postal survey.

Sleep fragmentation in mentally retarded people decreases with increasing daylength in spring.

We studied the sleep-wake behavior of mentally retarded people from late winter to early summer at 60 degrees N. During this time the daylength increased 8 h 51 min. The data were collected by observing the sleep-wake status of 293 subjects at 20-min intervals for five randomized 24h periods (= recording days).

Neurological impairments and sleep-wake behaviour among the mentally retarded.

The objective of the present study was to evaluate the relationship between the sleep-wake behaviour and neurological impairments among mentally retarded people. The sleep-wake behaviour of 293 mentally retarded subjects living in a rehabilitation center was studied by a standardized observation protocol carried out by trained staff members. The protocol consisted of brief check-ups of the subjects' sleep-wake status at 20-min intervals for five randomly chosen 24-h periods during 4 months.

Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?

Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magnetic resonance imaging (MRI) showed severe cerebral atrophy, especially fronto-temporally. The brothers also had a thin corpus callosum and atrophic caudate nuclei.

Transdermal fentanyl therapy for pains in children with infantile neuronal ceroid lipofuscinosis.

We used infantile neuronal ceroid lipofuscinosis (INCL), in which deterioration of the central nervous system is extremely rapid, to study constant release of an opioid for pains of central origin in a metabolic disease. The effect of a transdermal fentanyl patch was studied in five children with INCL. In two of them, measurements of 17 fentanyl serum concentrations and also visual analogue pain scale were obtained during a 15-day study period.

A patient with 2 different repeat expansion mutations.

Background: Many inherited progressive encephalopathies have a poor outcome, and some are caused by repeat expansion mutations. How would the presence of 2 different expansion mutations affect the phenotype?

Objective: To describe a patient who has 2 distinct, rare genetic disorders: myotonic dystrophy (DM, OMIM 160900) and progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1, OMIM 254800). Both conditions are caused by repeat expansion mutations.

No evidence for extraocular light induced phase shifting of human melatonin, cortisol and thyrotropin rhythms.

The view that light affects the mammalian circadian clock only through the eyes was recently challenged by a study in which the phases of human circadian rhythms were shifted by extraocular light exposure. This finding has not been confirmed, however. We studied the effects of light exposure (3 h, broad spectrum fluorescent white light, 13000 lux) on abdomen and chest on the circadian rhythms of serum melatonin, cortisol and thyrotropin in six subjects.

Extensive cerebral white matter abnormality without clinical symptoms: a new hereditary condition?

A 30-year-old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13-year follow-up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal.

Melatonin ineffective in neuronal ceroid lipofuscinosis patients with fragmented or normal motor activity rhythms recorded by wrist actigraphy.

Melatonin was tested as a sleeping pill in five patients with neuronal ceroid lipofuscinoses. The single-blind, placebo-controlled study consisted of motor activity recordings, sleep logs, and administration of placebo or melatonin (2.5 or 5 mg).

Bright light suppresses melatonin in blind patients with neuronal ceroid-lipofuscinoses.

We studied whether light information can reach the pineal glands of clinically blind patients with neuronal ceroid-lipofuscinoses. The suppression of melatonin by light was used as an indicator. Seven patients and seven control subjects were exposed to 3,000-lux light for 60 minutes at the rising phase of the melatonin synthesis.

CSF ACTH and beta-endorphin in infants with West syndrome and ACTH therapy.

Corticotrophin (adrenocorticotropic hormone, ACTH) and beta-endorphin levels of the cerebrospinal fluid (CSF) were determined in 16 infants with the West syndrome during individualized ACTH treatment. Prior to treatment, the levels of CSF ACTH were significantly higher in infants with cryptogenic spasms, normal perinatal events, or normal development than in infants with symptomatic spasms or delayed development. The CSF beta-endorphin levels did not differ among the groups.

Community-based study of Lennox-Gastaut syndrome.

Purpose: Before 1986, the spectrum of childhood epilepsies, including Lennox-Gastaut syndrome (LGS) and Doose syndrome (DS), known collectively as "epilepsia myoclonica astatica," was believed to represent a single disease. More recently, some investigators have considered these syndromes to be parts of a continuum. To clarify these theories, neurobiologic factors of the syndromes were studied to determine which qualities were shared and which were unique.

Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL).

Since 1990, altogether 16 INCL patients received lamotrigine (LTG) because of intractable epilepsy. The response to LTG was favorable in 15/16 children. The severity of seizures decreased significantly in 15/16 patients, the frequency of seizures decreased in 14/16, and the effects were maintained.

Brain perfusion SPECT abnormalities in neuronal ceroid lipofuscinoses.

Brain perfusion was studied with the Tc-99m-HMPAO SPECT method in 19 INCL patients, 21 JNCL patients and 5 patients with Jansky-Bielschowsky variant disease (JBVD). The typical SPECT findings at an early stage of INCL were bilateral anterior frontal, posterior temporoparietal and occipital hypoperfusion, whereas reduction in cerebellar perfusion appeared later. However, perfusion of basal ganglia and thalami, although atrophic on MRI, was usually well preserved up to the terminal stage.