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Biomedical subjects

J E Jan

Publications and source records attributed to J E Jan.

At least 37 records · Page 2Linked to original sources
PubMed1996

Visually impaired children with sensory defect nystagmus, normal appearing fundi and normal ERGS.

The differentiation of congenital motor nystagmus (CMN) from sensory defect nystagmus (SDN) in early life is a common diagnostic problem, since their wave forms are indistinguishable. A diagnosis of SDN is made when fundal or ERG abnormalities are present. CMN is generally diagnosed by exclusion. This approach can lead to late or incorrect diagnosis, and to the overlooking of important genetic implications. In addition, the classification of congenital nystagmus into pure motor and sensory types is inadequate. The authors present case reports illustrating this problem and suggest strict criteria for a diagnosis of CMN. They also point out that a miscellaneous group of rare disorders of the macula tend to be overlooked and misdiagnosed.

Adolescent↗
PubMed1996

Use of melatonin in the treatment of paediatric sleep disorders.

A group of Vancouver health professionals, including the authors, have studied the use of oral melatonin in the treatment of chronic sleep disorders in children with disabilities since the Fall of 1991. This review article is based on the first 100 patients, half of whom were visually impaired or blind. Children with neurological, neuropsychiatric, and developmental disabilities are predisposed to chronic sleep-wake cycle disturbances. Disorders such as blindness, deaf-blindness, mental retardation, autism, and central nervous system diseases, among others, diminish the ability of these individuals to perceive and interpret the multitude of cues for synchronizing their sleep with the environment. Melatonin, which benefitted slightly over 80% of our patients, appears to be a safe, inexpensive, and a very effective treatment of sleep-wake cycle disorders. The oral dose of fast release melatonin taken at bed-time ranged from 2.5 mg to 10 mg. Side effects or the development of tolerance have not been observed. Since the causes of sleep difficulties are extremely variable, not all children are candidates for treatment. For successful melatonin treatment, clinical experience is required, and the influences of other health problems and medications need to be considered. Further clinical and laboratory research in this field is imperative because melatonin treatment offers enormous health, emotional, social, and economic benefits to society, especially since multidisabled children with chronic sleep difficulties do not respond well to current therapeutic regimes.

Administration, Oral↗
PubMed1995

Familial paroxysmal kinesigenic choreo-athetosis in a child with visual hallucinations and obsessive-compulsive behaviour.

A teenage male is described, in whom Tourette Syndrome was suspected, which was later replaced by attacks of paroxysmal kinesigenic choreo-athetosis. He also exhibited bizarre, episodic perceptual distortions of his visual environment and manifestations of an obsessive-compulsive disorder. Carbamazepine treatment not only completely eliminated the recurring attacks of his choreo-athetosis but also, contrary to expectations, the visual disturbances and even the symptoms of his obsessive-compulsive disorder. Obsessive compulsive disorder should be searched for by direct questioning in all patients with basal ganglia disorders.

Adolescent↗
PubMed1994

Rapid cycling in severely multidisabled children: a form of bipolar affective disorder?

A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very little, at times were euphoric, had improved mental ability, and were hyperactive. These cyclic episodes had been present for years but unexpectedly disappeared in one child. The etiology is unknown, in spite of detailed neurologic, metabolic, and endocrine investigations. All patients had family histories positive for affective disorder. Melatonin treatment helped to regulate the coexisting chronic sleep disorders of 3 children but failed to eliminate the cycles. Antiepileptic drug treatment, lithium, sedatives, stimulants, tranquilizers, and light therapy were largely ineffective. The children's symptoms and signs fit the diagnostic criteria of a bipolar affective illness, as it was modified for patients with associated neurologic disability; therefore, the patients appeared to have a unique disorder that closely resembles or is a variant of rapid cycling affective disorder.

Adolescent↗
PubMed1994

The treatment of sleep disorders with melatonin.

Fifteen children (most of whom were neurologically multiply disabled) with severe, chronic sleep disorders were treated with 2 to 10mg of oral melatonin, given at bedtime. Nine had fragmented sleep patterns, three had delayed sleep onset and three others had non-specific sleep disturbance of unclear aetiology; all had failed to respond to conventional management. Nine patients had ocular or cortical visual impairment. The health, behavioural and social benefits of treatment were significant, and there were no adverse side-effects. While the response was not always complete, the study clearly showed that melatonin has an important role in the treatment of certain types of chronic sleep disorders.

Adolescent↗
PubMed1994

The septum pellucidum and spatial ability of children with optic nerve hypoplasia.

Animal studies suggest that spatial skills are dependent on an intact septum pellucidum. This theory was tested by comparing patients who were visually impaired due to bilateral optic nerve hypoplasia: 13 with a septum pellucidum were compared with six children without a septum pellucidum. There was no difference in spatial ability. The finding of an absent septum pellucidum may only indicate the timing of a congenital brain insult, and it cannot be used to predict specific clinical, neuroendocrinological, cognitive or spatial abnormalities.

Adolescent↗
PubMed1994

Eye-poking.

Eye-poking, -rubbing and -pressing are often incorrectly grouped together because of the assumption that they represent variations of the same self-stimulating behaviour. This prospective study of 21 children shows that eye-poking is a distinct, chronic, stereotyped, self-injurious act seen mainly among severely mentally disabled individuals, who may or may not be visually impaired. Eye-poking, which leads to intense, self-induced pain, is a harmful behaviour because it can result in permanent visual loss and even in total blindness. The cause is unclear, although it is probably multifactorial. The treatment is exceedingly difficult. Further studies are needed to develop specific management techniques to prevent eye-poking, which adds to the physical and emotional burden on the caregivers.

Adolescent↗
PubMed1993

Oculocerebral hypopigmentation syndrome associated with Bartter syndrome.

We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome. When combined, these neurocutaneous and renal findings form a previously unreported combination. The neurological and cutaneous manifestations of this case are distinctly different from those of the syndrome first reported by Cross et al. [1967]. The literature is reviewed and an attempt is made at classifying the oculocerebral hypopigmentation syndromes.

Adult↗
PubMed1993

Acquired ocular visual impairment in children. 1960-1989.

OBJECTIVE: To describe the causes, sites, and types of eye anomaly and associated handicaps in children identified in the last 30 years with ocular visual impairment of 20/200 (6/60) or worse in the better eye with correction. DESIGN: Trend study. STUDY POPULATION: Children in British Columbia younger than 19 years with visual loss diagnosed between January 1960 and December 1989 who were referred for multidisciplinary assessment. RESULTS: The incidence of acquired ocular visual impairment has decreased from 0.6 to less than 0.2 per 10,000 people aged 19 years or younger during the last 30 years. The most common cause was a genetic cause, followed by tumor, injury, infection and autoimmune disorders. Optic nerve atrophy and retinal disorders together resulted in more than 90% of all ocular lesions. Gender distribution revealed more males than females to be affected. Sixty-six percent of children had enough sight to read. The percentage of affected children with neurologic disabilities has increased overall in the last 30 years because more children with profound brain damage have survived. CONCLUSIONS: Acquired ocular visual impairment is rare. The incidence of such impairment has been reduced by two thirds in the last 30 years. This decline has had little impact, however, because most cases of blindness are due to congenital conditions. The number of cases of acquired blindness is only one fourth that of congenital blindness, which has begun to increase again owing to the reemergence of retinopathy of prematurity.

Adolescent↗
PubMed1993

Monocular nystagmus caused by unilateral anterior visual-pathway disease.

The authors examined five young children with monocular vision loss who developed monocular nystagmus. The nystagmus was of fast frequency and small amplitude in all fields of gaze. In four children, successful treatment of the cause of the vision loss resulted in cessation of the nystagmus. No child showed signs of spasmus nutans, or of optic nerve or chiasmal tumor. The evaluation of the young child with unilateral nystagmus should begin with a careful eye examination.

Eye Diseases↗
PubMed1993

Photophobia and cortical visual impairment.

Photophobia, or intolerance of light, is not completely understood as a symptom. It has been divided into ocular and central types. This study shows that persistent, usually mild, photophobia occurs in about one-third of children with cortical visual impairment (CVI). When the CVI is congenital the photophobia is present from birth, and when it is acquired the sensitivity to light appears immediately after the brain insult. The intensity of photophobia tends to diminish with time and occasionally it may even disappear. The pathophysiology is unclear, as in all other neurological disorders associated with photophobia.

Brain↗
PubMed1992

Ataxia-telangiectasia in a child with vaccine-associated paralytic poliomyelitis.

Vaccine-acquired poliomyelitis developed in a nonimmunized 10-month-old boy. At age 4 years, ataxia-telangiectasia was recognized. We conclude that the occurrence of vaccine-related poliomyelitis warrants a detailed assessment of immunity, and that, in patients with ataxia-telangiectasia, the use of live vaccines may be hazardous, even in those with apparently normal immunity.

Ataxia Telangiectasia↗
PubMed1992

Visual hallucinations after acute visual loss in a young child.

A four-year-old boy developed complex visual hallucinations consisting of moving figures, animals and other familiar objects one week after becoming totally blind. This followed a six-month period of gradually deteriorating vision and was precipitated by the debulking of a large optic nerve glioma. Although visual hallucinations are well recognised in adults with visual loss, secondary to both ophthalmological and neurological causes, they have not been reported in young children.

Blindness↗
PubMed1992

Neurodevelopmental criteria in the classification of congenital motor nystagmus.

Congenital motor nystagmus (CMN) can be familial or non-familial. The expressivity of CMN is so variable that in one affected member of the family the oscillations are obvious, while in the others the nystagmus could be overlooked even by the patients themselves. In spontaneous cases the proof of heredity might be discovered by an ophthalmological examination or eye movement recordings of other family members. Our multidisciplinary studies of 27 children with CMN suggests that a neurodevelopmental assessment can also be valuable in establishing a diagnosis of heredity. Our studies suggest that the hereditary form of CMN is free from neurodevelopmental problems, while the non-familial form is not. Therefore, children with spontaneous CMN could be referred for neurodevelopmental evaluation in order to establish a more accurate diagnosis.

Adolescent↗
PubMed1991

Hepatic dysfunction in Alström disease.

Alström disease is a rare disorder; less than 20 cases have been reported. An 11-year-old girl is described with this condition. She has pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans. However, in addition she developed hepatic dysfunction, pathologically similar to chronic active hepatitis. This may be a further, previously undescribed systemic manifestation of Alström disease.

Acanthosis Nigricans↗
PubMed1991

Rapid recovery from cortical visual impairment following correction of prolonged shunt malfunction in congenital hydrocephalus.

Three children with congenital hydrocephalus are described in whom increased intracranial pressure was associated with severe, long-lasting cortical visual impairment. Following shunt revisions or reconstructive craniotomies, visual improvement began within hours. It is speculated that increased intracranial pressure can occasionally result in chronic hypoperfusion of the parietal-occipital lobes, either due to posterior cerebral artery compromise secondary to transtentorial pressure gradient or to direct compression of cerebral tissues.

Cerebrospinal Fluid Shunts↗