Background: The aim of the study was to determine neurological and neuropsychiatric manifestations in a group of patients with previously undiagnosed or untreated phenylketonuria (PKU) in the south-eastern part of Poland. Methods: The study was conducted among 400 adults with severe intellectual disability who were born prior to neonatal screening…

One of the most common and serious co-morbidities in patients with epilepsy is cognitive impairment. While early-life seizures are considered a major cause for cognitive impairment, it is not known whether it is the seizures, the underlying neurological substrate or a combination that has the largest impact on eventual learning and memory. Teasing…

Aim: Our aim was to study the clinical presentation, mode of diagnosis, and epidemiology of mitochondrial disorders in children from the UK who have progressive intellectual and neurological deterioration (PIND). Method: Since April 1997, we have identified patients aged 16 years or younger with suspected PIND through the monthly notification card…

Aim: To study the aetiology of intellectual disability in patients presenting to hospital and the diagnostic yield of a standardized examination. Method: Over a 1-year period, the first three children presenting to the paediatric outpatients department (OPD) on 2 selected weekdays with developmental delay, suspected intellectual disability, or…

Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance. It has heterogeneous clinical manifestations and imaging patterns, yet large cohort data defining the clinical and imaging…

Background: Falls among people with intellectual disability (ID) occur at a younger age than the general population and are a significant cause of injury and hospitalisation. There is very limited research investigating risk factors for falls among people with ID and none with people living outside of formal care arrangements, either independently…

This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in greater than 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in…

Clozapine is licensed for the treatment of psychotic illnesses resistant to other antipsychotic medications. Velo-cardio-facial syndrome (VCFS) is associated with a vulnerability to psychotic illness that may be resistant to treatment with conventional typical and atypical antipsychotics. A 32-year-old man with intellectual disability (ID) and a…

To study the effectiveness of topiramate (TPM) in refractory epilepsy in patients who have intellectual disability (ID). A representative population sample of 57 patients with ID (age range 261, mean 32.8) was administered add-on TPM for drug-refractory epilepsy. Results Seizure freedom for at least for 6months was attained by 10 (17%), and…

Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene ("FMR1") and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical…