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Presentation Onset is in early infancy with abnormally rapid breathing, jerky eye movements, mental retardation , hemifacial spasms, seizures and ataxia: Eyes: abnormal eye moveme...
Clinically, there are two distinct syndromes: A pure muscle syndrome characterized by recurrent cramps and muscle breakdown in response to intense exercise. [ 3 ] A "muscle plus" s...
There are herpetiform corneal ulcers and hyperkeratotic lesions of the digits, palms, and soles, as well as mental retardation and growth retardation. The biochemical and enzyme de...
Extrarenal manifestations (may be due to a combination of other genetic defects) [ 1 ] Retinal degeneration (Senior-Loken syndrome). [ 6 ] Retinitis pigmentosa. Mental retardation...
Most cases are sporadic mutations, but an autosomal dominant transmission has been described (chromosome 13). [ 1 ] Risk factors Misoprostol, ergotamine, and chorionic villus sampling have be...
Other abnormalities ( cleft palate , colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent. In severely affected patients the airway is compromised by the mand...
The term has also been used to describe localised and linear warty epidermal nevi sometimes associated with mental retardation, seizures or skeletal anomalies. Alopecia, and hair and nail abn...
Learning disability [ 2 ] - this was formerly termed mental handicap or mental retardation. It can be divided into two groups: A child with general learning disability finds ...
In fragile X syndrome there is an expansion of the number of repeat sequences in the fragile X mental retardation (FMR1) gene. This gene is on the X chromosome (Xq28). The nucleotides involve...
Delayed treatment may result in neurological complications, including mental retardation, seizures and coma . Profound biotinidase (BTD) deficiency may result in death if untreated and the c...
Epilepsy. Mental retardation. Enlarged liver and spleen, jaundice. Ataxia causing incoordination and a typical ataxic gait; tremor.
Differential diagnosis This is very broad and includes other causes of epilepsy, autism, hyperactivity and reduced attention span, aggressive (eg, rage attacks), oppositional, or psychotic behav...
In 70% there is intrauterine growth restriction as well as failure to grow and thrive. Mental retardation occurs in 70% with possible microcephaly and cerebral atrophy. G enital hypoplasi...
Psychotic episodes and delirium occur in a few patients. Mild mental retardation is uncommon. Permanent hypopigmentation and/or hyperpigmentation of the skin occur with repeated exposure to s...
The most common sequelae are sensorineural hearing loss, mental retardation and cerebral palsy. [ 7 ] Antiviral therapy of children with symptomatic central nervous system congenital CMV...
Mental Capacity Act, See the separate Consent To Treatment (Mental Capacity and Mental Health Legislation) , Consent To Treatment In Children (Mental Capacity a...
Poverty and Mental Health, There is a growing contribution of mental health problems to the global disease burden - neuropsychiatric disorders now account for about 13% of the total. [ 1 ] ...
Antenatal Mental Health Problems, Consent and capacity - due regard should be given to the prevailing legislation and guidelines on consent. [ 5 ] This should include the Mental H...
Consent To Treatment (Mental Capacity and Mental Health Legislation), See also the separate Consent to Treatment in Children (Mental Capacity and Mental Health Leg...
Consent to Treatment in Children (Mental Capacity and Mental Health Legislation), See also the separate Consent To Treatment (Mental Capacity and Mental Health L...