Tay-Sachs disease: case reports with emphasis on chromatographic study of rectal biopsy.

Abstract:

:Two South Indian Hindu children with typical clinical features compatible with Tay-Sachs disease are presented. The identification of GM2 as the major ganglioside in the lipid extract of rectal biopsy helped to confirm the clinical diagnosis.

journal_name

Dev Med Child Neurol

authors

Rao JG,Rama V,Srinivas K,Valmikinathan K

doi

10.1111/j.1469-8749.1975.tb03475.x

subject

Has Abstract

pub_date

1975-04-01 00:00:00

pages

228-31

issue

2

eissn

0012-1622

issn

1469-8749

journal_volume

17

pub_type

杂志文章
  • Rectus femoris release in selected patients with cerebral palsy: a preliminary report.

    abstract::Two theories concerning the effects of surgical release of the proximal origins of the rectus femoris in spastic patients are (1) that release reduces hip flexion contracture and lumbar lordosis and diminishes crouch, and (2) that release primarily enhances early swing-phase knee flexion. A series of eight patients wi...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1975.tb04953.x

    authors: Sutherland DH,Larsen LJ,Mann R

    更新日期:1975-02-01 00:00:00

  • Walking and living independently with spina bifida: a 50-year prospective cohort study.

    abstract:AIM:To describe trends in walking and living independently in a cohort of consecutive cases of spina bifida, followed-up over 50 years. METHOD:From 1972 to 2017, a cohort of 117 (born 1963-1971, 50 males, 67 females) survivors and/or carers was surveyed approximately every 5 years by clinical examination and/or postal...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/dmcn.14168

    authors: Oakeshott P,Poulton A,Hunt GM,Reid F

    更新日期:2019-10-01 00:00:00

  • Maternal thyroid function and motor competence in the child.

    abstract::Serum thyroid hormone levels were measured in women living in an area of severe dietary iodine deficiency in a remote region of Papua New Guinea. Levels of maternal hormone were found to be related to the motor competence of the women's offspring, who were aged between six years and 11 years 10 months at the time of a...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1981.tb08448.x

    authors: Pharoah P,Connolly K,Hetzel B,Ekins R

    更新日期:1981-02-01 00:00:00

  • Pain in children with dyskinetic and mixed dyskinetic/spastic cerebral palsy.

    abstract:AIM:To evaluate pain prevalence and characteristics in children and adolescents with predominant dyskinetic and mixed (dyskinetic/spastic) cerebral palsy (CP) motor types. METHOD:Seventy-five participants with a diagnosis of CP and confirmed dyskinetic or mixed (dyskinetic/spastic) motor type took part in a multisite ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/dmcn.14615

    authors: McKinnon CT,Morgan PE,Antolovich GC,Clancy CH,Fahey MC,Harvey AR

    更新日期:2020-11-01 00:00:00

  • Selective Control Assessment of the Lower Extremity (SCALE): development, validation, and interrater reliability of a clinical tool for patients with cerebral palsy.

    abstract::Normal selective voluntary motor control (SVMC) can be defined as the ability to perform isolated joint movement without using mass flexor/extensor patterns or undesired movement at other joints, such as mirroring. SVMC is an important determinant of function, yet a valid, reliable assessment tool is lacking. The Sele...

    journal_title:Developmental medicine and child neurology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1469-8749.2008.03186.x

    authors: Fowler EG,Staudt LA,Greenberg MB,Oppenheim WL

    更新日期:2009-08-01 00:00:00

  • Prognostic factors for cerebral palsy and motor impairment in children born very preterm or very low birthweight: a systematic review.

    abstract:AIM:There is a large literature reporting risk factor analyses for poor neurodevelopment in children born very preterm (VPT: ≤32wks) or very low birthweight (VLBW: ≤1250g), which to date has not been formally summarized. The aim of this paper was to identify prognostic factors for cerebral palsy (CP) and motor impairme...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章,评审

    doi:10.1111/dmcn.12972

    authors: Linsell L,Malouf R,Morris J,Kurinczuk JJ,Marlow N

    更新日期:2016-06-01 00:00:00

  • White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.

    abstract:AIM:Mutations in the SLC16A2 gene have been implicated in Allan-Herndon-Dudley syndrome (AHDS), an X-linked learning disability* syndrome associated with thyroid function test (TFT) abnormalities. Delayed myelination is a non-specific finding in individuals with learning disability whose genetic basis is often uncertai...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.2009.03471.x

    authors: Gika AD,Siddiqui A,Hulse AJ,Edward S,Fallon P,McEntagart ME,Jan W,Josifova D,Lerman-Sagie T,Drummond J,Thompson E,Refetoff S,Bönnemann CG,Jungbluth H

    更新日期:2010-05-01 00:00:00

  • Early sucking and swallowing problems as predictors of neurodevelopmental outcome in children with neonatal brain injury: a systematic review.

    abstract:AIM:Early sucking and swallowing problems may be potential markers of neonatal brain injury and assist in identifying those infants at increased risk of adverse outcomes, but the relation between early sucking and swallowing problems and neonatal brain injury has not been established. The aim of the review was, therefo...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1469-8749.2012.04318.x

    authors: Slattery J,Morgan A,Douglas J

    更新日期:2012-09-01 00:00:00

  • Language lateralization in children using functional transcranial Doppler sonography.

    abstract:AIM:Language lateralization with functional transcranial Doppler sonography (fTCD) and lexical word generation has been shown to have high concordance with the Wada test and functional magnetic resonance imaging in adults. We evaluated a nonlexical paradigm to determine language dominance in children. METHOD:In 23 rig...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.2009.03362.x

    authors: Haag A,Moeller N,Knake S,Hermsen A,Oertel WH,Rosenow F,Hamer HM

    更新日期:2010-04-01 00:00:00

  • Behavior and mental health problems in children with epilepsy and low IQ.

    abstract::The purpose of this cross-sectional descriptive study was to describe the particular types of behavioral problems, self-concept, and symptoms of depression experienced by children with both low IQ and epilepsy. Three groups of children (83 males, 81 females; mean age 11 years 10 months, SD 1 year 10 months; age range ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1017/s0012162203001270

    authors: Buelow JM,Austin JK,Perkins SM,Shen J,Dunn DW,Fastenau PS

    更新日期:2003-10-01 00:00:00

  • Early environmental influences on the development of children's brain structure and function.

    abstract::The developing brain in utero and during the first years of life is highly vulnerable to environmental influences. Experiences occurring during this period permanently modify brain structure and function through epigenetic modifications (alterations of the DNA structure and chromatin function) and consequently affect ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章,评审

    doi:10.1111/dmcn.14182

    authors: Miguel PM,Pereira LO,Silveira PP,Meaney MJ

    更新日期:2019-10-01 00:00:00

  • Dopa-responsive childhood dystonia: a forme fruste with writer's cramp, triggered by exercise.

    abstract::An 11-year-old girl was evaluated for walking difficulties and fatigue at the end of the day in the last 2 years. Handwriting was also difficult with 'cramps' after a short time of writing. Neurological examination was normal most of the time but in the evening and after exercise, an abnormal walking posture and rare ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1997.tb08204.x

    authors: Deonna T,Roulet E,Ghika J,Zesiger P

    更新日期:1997-01-01 00:00:00

  • Body mass index trajectories in pediatric multiple sclerosis.

    abstract:AIM:To characterize growth trajectories of children who develop multiple sclerosis compared to typically developing, regional peers and Centers for Disease Control (CDC) normative values. METHOD:This case-control study collected weight, height, and body mass index (BMI) in 40 consecutive pediatric patients with multip...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/dmcn.14233

    authors: Brenton JN,Woolbright E,Briscoe-Abath C,Qureshi A,Conaway M,Goldman MD

    更新日期:2019-11-01 00:00:00

  • Transient bilateral internuclear ophthalmoplegia after minor head-trauma.

    abstract::Following minor occipital head-trauma, a six-year-old boy developed bilateral internuclear ophthalmoplegia (INO) as the only neurological sign. After having excluded all other possible aetiological causes by careful examination, including magnetic resonance imaging, the symptoms eventually were attributed to the traum...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1993.tb11618.x

    authors: Mueller C,Koch S,Toifl K

    更新日期:1993-02-01 00:00:00

  • Fine motor skills and effects of methylphenidate in children with attention-deficit-hyperactivity disorder and developmental coordination disorder.

    abstract::The aims of this study were to investigate fine motor skills of children with both attention-deficit-hyperactivity disorder (ADHD) and developmental coordination disorder (DCD) and those of a control group, and to examine the effects of methylphenidate on these skills. A group of 12 children with ADHD-DCD (11 males, o...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1017/S0012162206000375

    authors: Flapper BC,Houwen S,Schoemaker MM

    更新日期:2006-03-01 00:00:00

  • Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study.

    abstract::The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those parents who identified a problem were asked to complete a sleep diary, afte...

    journal_title:Developmental medicine and child neurology

    pub_type: 临床试验,杂志文章

    doi:10.1017/s0012162201002171

    authors: Ross C,Davies P,Whitehouse W

    更新日期:2002-05-01 00:00:00

  • Changes in popliteal angle measurement in infants up to one year of age.

    abstract::The purpose of this study was to determine trends in the changes of the popliteal angle in 130 normal infants between one day and 12 months of age, for use in assessing infants with possible neuromuscular pathology. Using a 360 degree goniometer, the popliteal angle was measured with the hip held at 90 degree flexion,...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1984.tb08171.x

    authors: Reade E,Hom L,Hallum A,Lopopolo R

    更新日期:1984-12-01 00:00:00

  • Visually impaired children and haptic intelligence test scores: intelligence test for visually impaired children (ITVIC).

    abstract::This paper reports the results of verbal and haptic intelligence tests for the whole population of the visually impaired, braille-educated Dutch children and Dutch-speaking children in Belgium. The scores of children with and without usable vision generally confirmed expectations. Children with usable vision had highe...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1993.tb11678.x

    authors: Dekker R

    更新日期:1993-06-01 00:00:00

  • Consciousness in congenitally decorticate children: developmental vegetative state as self-fulfilling prophecy.

    abstract::According to traditional neurophysiological theory, consciousness requires neocortical functioning, and children born without cerebral hemispheres necessarily remain indefinitely in a developmental vegetative state. Four children between 5 and 17 years old are reported with congenital brain malformations involving tot...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1017/s0012162299000821

    authors: Shewmon DA,Holmes GL,Byrne PA

    更新日期:1999-06-01 00:00:00

  • The efficacy of functional gait training in children and young adults with cerebral palsy: a systematic review and meta-analysis.

    abstract:AIM:The aim of this systematic review was to investigate the effects of functional gait training on walking ability in children and young adults with cerebral palsy (CP). METHOD:The review was conducted using standardized methodology, searching four electronic databases (PubMed, Embase, CINAHL, Web of Science) for rel...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章,meta分析,评审

    doi:10.1111/dmcn.13708

    authors: Booth ATC,Buizer AI,Meyns P,Oude Lansink ILB,Steenbrink F,van der Krogt MM

    更新日期:2018-09-01 00:00:00

  • Cerebral palsy and assisted reproductive technologies: a case-control study.

    abstract:AIM:To determine whether assisted reproductive technologies (ART) were more likely to be the method of conception in singletons with cerebral palsy (CP) than in those without CP. METHOD:Singletons with CP born between 1991 and 2004 were selected from the Victorian Cerebral Palsy Register and matched for birth year to ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.2009.03556.x

    authors: Reid SM,Jaques AM,Susanto C,Breheny S,Reddihough DS,Halliday J

    更新日期:2010-07-01 00:00:00

  • Asymptomatic cerebellar atrophy after acute enteroviral encephalitis.

    abstract::We report on a 13-year-old male who had acute enteroviral encephalitis causing cerebellar symptoms at the age of 10 years. Magnetic resonance imaging (MRI) showed no abnormalities. Clinically he appeared to be recovered completely after 6 months. Twenty-three months after the recovery, MRI was performed because he pre...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1017/s0012162205000939

    authors: Vitaszil E,Kamondi A,Csillik A,Velkey I,Szirmai I

    更新日期:2005-07-01 00:00:00

  • Hemimegalencephaly in an adult with normal intellectual function and mild epilepsy.

    abstract::Hemimegalencephaly is a rare congenital brain malformation, usually associated with mental retardation, * refractory epilepsy, and progressive neurological deficits. We report the case of a 19-year-old female with de novo diagnosis of right hemimegalencephaly, normal intellectual function, and history of non-refractor...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.2011.04136.x

    authors: Beaulieu-Boire I,Lortie A,Bissonnette J,Prevost S,Bergeron D,Bocti C

    更新日期:2012-03-01 00:00:00

  • Electrophysiological approach to the study of essential tremor in children and adolescents.

    abstract::Surface electromyography and accelerometry provide essential information on the neurophysiological characteristics of essential tremor. There are many reports on neurophysiological features in adult-onset essential tremor, but to our knowledge there have been no similar investigations of essential tremor in children. ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1017/s0012162203001130

    authors: Fusco C,Valls-Solé J,Iturriaga C,Colomer J,Fernández-Alvarez E

    更新日期:2003-09-01 00:00:00

  • Magnetic resonance imaging arterial-spin-labelling perfusion alterations in childhood migraine with atypical aura: a case-control study.

    abstract:AIM:Atypical migraine with aura can be challenging to diagnose. Arterial-spin-labelling (ASL) is able to non-invasively quantify brain perfusion. Our aim was to report cerebral blood flow (CBF) alterations using ASL, at the acute phase of atypical migraine with aura in children. METHOD:Paediatric patients were retrosp...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/dmcn.13123

    authors: Boulouis G,Shotar E,Dangouloff-Ros V,Grévent D,Calmon R,Brunelle F,Naggara O,Kossorotoff M,Boddaert N

    更新日期:2016-09-01 00:00:00

  • Development and psychometric properties of the Hand-Use-at-Home questionnaire to assess amount of affected hand-use in children with unilateral paresis.

    abstract:AIM:To describe the development of the parent-rated Hand-Use-at-Home questionnaire (HUH) assessing the amount of spontaneous use of the affected hand in children with unilateral paresis, and to test its internal structure, unidimensionality, and validity. METHOD:Parents of children with unilateral cerebral palsy (CP) ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/dmcn.13449

    authors: Geerdink Y,Aarts P,van der Holst M,Lindeboom R,Van Der Burg J,Steenbergen B,Geurts AC

    更新日期:2017-09-01 00:00:00

  • Unusual dyskinesia complicating cardiopulmonary bypass surgery.

    abstract::Four infants developed dyskinesia after cardiopulmonary bypass surgery three to four days postoperatively. The dyskinesia was choreoathetotic, and involved mainly the mouth, tongue and face. It was absent during sleep. Three of these infants improved over periods of several weeks, but one infant remained dyskinetic on...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1993.tb11701.x

    authors: Huntley DT,al-Mateen M,Menkes JH

    更新日期:1993-07-01 00:00:00

  • Polyradiculitis (Landry-Guillain-Barré syndrome) with total external ophthalmoplegia: encephalo-myelo-radiculo-neuropathy.

    abstract::Total ophthalmoplegia is described in an eight-year-old boy with polyradiculitis. The findings suggest central nervous system involvement. It is postulated that this case represents an entity intermediate between the Miller-Fisher and the Landry-Guillain-Barré syndromes, with features of brain-stem encephalitis. ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/j.1469-8749.1976.tb03659.x

    authors: Green SH

    更新日期:1976-06-01 00:00:00

  • Muscle growth is reduced in 15-month-old children with cerebral palsy.

    abstract:AIM:Lack of muscle growth relative to bone growth may be responsible for development of contractures in children with cerebral palsy (CP). Here, we used ultrasonography to compare growth of the medial gastrocnemius muscle in children with and without CP. METHOD:Twenty-six children with spastic CP (15 males, 11 females...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章

    doi:10.1111/dmcn.12950

    authors: Herskind A,Ritterband-Rosenbaum A,Willerslev-Olsen M,Lorentzen J,Hanson L,Lichtwark G,Nielsen JB

    更新日期:2016-05-01 00:00:00

  • Principles of plasticity in the developing brain.

    abstract::The developing brain is especially sensitive to a wide range of experiences, showing a remarkable capacity for plastic changes that influence behavioural outcomes throughout the lifetime. We review the principles that regulate this plasticity in development and consider the factors that modulate the developing brain. ...

    journal_title:Developmental medicine and child neurology

    pub_type: 杂志文章,评审

    doi:10.1111/dmcn.13546

    authors: Kolb B,Harker A,Gibb R

    更新日期:2017-12-01 00:00:00