PURPOSE To study the usefulness of EEG in the diagnosis of lissencephaly, a rare cortical developmental disorder associated with abnormal cellular proliferation. Currently, the clinical emphasis is placed on the radiological and genetic aspects for the diagnosis of lissencephaly. METHODS This is a retrospective review of consecutive EEG recordings and imaging data from 14 children, with the d...

The epileptic encephalopathies comprise a heterogeneous group of neurodevelopmental disorders characterized by marked epileptic activity associated with developmental regression. The genetic confirmation and classification of a clinical diagnosis in an individual may provide certainty in treatment decisions, prognosis, and evaluation of seizure recurrence risks and may also prevent unnecessary ...

STUDY OBJECTIVE The aim was to carry out an economic evaluation of the programme implemented in one district health authority for the screening of infants for hearing loss. DESIGN The approach taken was a cost-effectiveness analysis using the methodology of decision analysis to model the options appraised: (1) the conventional screening policy was for a health visitor and colleague to screen ...

Family physicians treat an increasing number of children with metabolic disorders identified through newborn screening, and they are often the first line of defense in responding to an abnormal screening result. How the family physician chooses to interpret information from the screening and what he or she chooses to tell the family affects the parent-child relationship, as well as the infant's...

Adolescents who are actively requesting Huntington's predictive testing of their own accord pose a dilemma to those providing testing. In the absence of empirical evidence as regards the impact of genetic testing on minors, current policy and guidelines, based on the ethical principles of non-maleficence and respect for individual autonomy and confidentiality, generally exclude the testing of m...

Understanding the evolutionary leap from non-flowering (gymnosperms) to flowering (angiosperms) plants and the origin and vast diversification of the floral form has been one of the focuses of plant evolutionary developmental biology. The evolving diversity and increasing complexity of organisms is often due to relatively small changes in genes that direct development. These "developmental cont...

We followed 55 high risk newborns from birth till one year using Trivandrum Development Screening Chart (TDSC) and Denver Development Screening Test (DDST). We also assessed their muscle tone, vision and hearing. Babies were classified into mild, moderate, and severe risk groups using a scoring system. Babies with developmental delay were categorized as having mild, moderate, or severe delay. T...

objective electroencephalogram (eeg) is an easy and non invasive evaluation method for diagnosis and early prognosis in children. our aim was to assess the association between eeg and the patients' developmental quotient (dq) level in phenylketonuria. materials & methods in this study, 94 pku patients (45 boys, 49 girls; mean age: 8.5 6.2 years) who were diagnosed through newborn screening test...

Congenital hypothyroidism (CH) is the commonest cause of preventable developmental delay with an incidence of 1/3500-4500 newborns. The incidence of symptomatic cases has decreased dramatically in the developed countries with the advent of newborn screening. However, much work still needs to be done in the developing world in improving awareness and devising newborn screening strategies etc. In...

OBJECTIVE To measure parental tolerance for a false-positive newborn screening result by assessing perceived quality of life for screening results and health states associated with expanded newborn screening programs for metabolic disorders. DESIGN Perceived quality of life was measured using time trade-off and willingness-to-pay questions for a false-positive newborn screening result and oth...