Systematic studies of cognitive development in individuals with congenital giant interhemispheric cysts (GIC) without neurosurgical intervention are rare. However, data from such studies are of great importance in deciding whether or not to perform cerebral shunting in otherwise asymptomatic patients. In this study, psychomotor function was examined in 13 children (three females, 10 males; mean age at follow-up: females 1 year 6 months, males 3 years 2 months; age range: females 13 months to 4.2 years, males 10 months to 10 years) all diagnosed with GIC during the neonatal period after indicative foetal ultrasound. Eight patients received neurosurgical treatment due to increased intracerebral pressure during the first year of life. Psychomotor development was evaluated using Griffith's Psychomotor Developmental Scales, the Sniders–Oomen Non-verbal Intelligence Scale for Young Children and the Kaufmann Assessment Battery for Children. The majority of patients showed normal intelligence, irrespective of the presence or absence of neurosurgical intervention. Evidence was found that the cognitive outcome might be related to an association of GIC with agenesis of the corpus callosum or additional congenital cerebral malformations, such as gyration anomalies. Main postoperative complications were chronic subdural effusions with spastic cerebral (hemi)-paresis; were present in three patients. In view of the risk of severe postoperative neurological complications and a comparable psychomotor development in patients without neurosurgical treatment, recommendations for early neurosurgical intervention in otherwise asymptomatic patients with a foetal or neonatal diagnosis of GIC should be viewed with caution.

Drooling is one of the more common associated dysfunctions in children with cerebral palsy (CP) and is perhaps the most problematic socially. In 1990, at the urging of the United Cerebral Palsy Research and Education Foundation, North American experts from a variety of related fields met in Charlottesville, Virginia, to address in a systematic way the subject of drooling. Based on the outcome of that gathering, known as the Consortium on Drooling, a review article was published in this journal, three instructional courses and one symposium were subsequently presented at AACPDM annual meetings, a number of local conferences and seminars have been generated, and several research projects have been undertaken. Thus, there has been considerable activity and some progress in the past 10 years but most of the fundamental issues still remain. The purpose of this annotation is to summarize briefly the new knowledge that has accrued, offer some personal insights based on experiences of the past decade and suggest a practical clinical approach to drooling management. For a systematic overview of salivary physiology, drooling, and the approach to diagnosis and treatment, the reader is referred to the 1992 review article.

Cerebral palsy (CP) consists of a wide range of lifetime physical disabilities caused by damage to the brain during intrauterine and early neonatal life. The risk of CP is increased among survivors of prematurity and in low-birthweight (LBW) infants. Increased prematurity and LBW rates are more common in multifoetal pregnancies, therefore, these pregnancies have also been associated with increased rates of CP. Given the world wide epidemic dimensions of multiple births, this paper discusses current concepts regarding CP in multifoetal gestations.

Children with cerebral palsy (CP) are functionally limited to varying degrees because of their decreased central control and coordination of their movements. The effects of growth predispose children with neurological impairments to the secondary problems of muscle contractures, bony deformities, and unusual gait abnormalities. Health care programmes aim to prevent deformities and encourage the development of functional and independent skills and abilities. Orthoses continue to have an important role in many therapeutic regimens for children with CP, however, there have been differences in designs of orthoses prescribed for the common problem of spastic equinus. This is because different treatment paradigms have evolved which advocate different designs of ankle–foot orthoses (AFOs).

This report describes the case history of two male siblings with sensorineural hearing loss and an enlarged vestibular aqueduct (EVA). Sibling 1 presented with a history of intermittent self-limiting ataxia and hearing loss at the age of 25 months and sibling 2 presented with a similar history at the age of 18 months. MRI showed an enlarged endolymphatic duct and sac bilaterally in both children. Perchlorate discharge tests were positive in both infants leading to a diagnosis of Pendred syndrome. A number of conditions associated with EVA are discussed with a view to devising management strategies.

This is a report of a 9-year-old female with a clinical presentation of benign intracranial hypertension (BIH) who was found to have an unruptured pial arteriovenous malformation (AVM) with a significant fistula. The AVM was completely embolized using a recently developed liquid embolic system, Onyx, after which gradual clinical improvement followed. A few cases of BIH associated with AVM have been described in adults and adolescents. Possible causal relation is discussed.

This review draws together current understanding of the impact of visual impairment (VI) on early neurodevelopmental and neurobiological processes. The impact is recognized as being substantial. Two major problems make it difficult to draw conclusions from much of the literature on this subject. The first is the heterogeneity of samples of children with VI in terms of additional impairments that introduce multiple confounding variables: in Western societies the prevalence of additional impairments is 60 to 70%. Secondly, subgrouping according to the degree or severity of VI is inconsistent and can be suboptimal for developmental studies of infancy. Our group has reconsidered these questions of taxonomy and applied new ones to our recent research cohorts.

In the past 40 years, children with minor developmental motor disorders have been studied by professionals from various fields: paediatricians, neurologists, psychiatrists, psychologists, and physical and occupational therapists. The differences in background of these professionals led to a plethora of terms used to refer to these conditions: e.g. minimal cerebral palsy, minimal cerebral dysfunction, developmental apraxia or dyspraxia, minimal brain dysfunction, sensory integrative dysfunction, and developmental coordination disorder. It was generally acknowledged that such a multitude of names was confusing and so, in 1994, an international consensus meeting of professionals from various fields agreed to use the term ‘developmental coordination disorder’ (DCD). DCD in general refers to children with normal intelligence who have poor motor coordination without clear evidence of a neurological pathology, such as cerebral palsy (CP) or muscular dystrophy. In other words, DCD is a ‘final common output’ term, without aetiological or pathophysiological foundation. The advantage of such an umbrella term is that it includes all children with motor problems that interfere with their daily life, i.e. children who deserve clinical attention. However, the disadvantage of the term DCD is its aspecificity. Indeed, it is becoming increasingly clear that children with DCD constitute a heterogeneous population with various types of motor dysfunction.

Cerebral palsy (CP) is a collection of disorders characterized by an insult to the developing brain that produces a physical disability as the primary or distinguishing feature. The spastic form of CP is most common and in those patients, additional clinical signs may include muscle shortening, diminished selective control, and weakness. The recognition of weakness as a component of CP has been longstanding as evidenced by the names given to this disorder and its subtypes. ‘Cerebral palsy’ means weakness originating from the brain, and the use of the suffixes ‘plegia’ or ‘paresis’ also indicate that weakness is a prominent feature. More than 50 years ago, Phelps contended that resisted exercise ‘to develop strength or skill in a weakened muscle or an impaired muscle group’ was an integral part of treatment in CP. (p 59)Since that time, physical educators have also advocated strengthening. Yet for years, conventional clinical wisdom in physical therapy argued against the use of strength testing and training in children with CP and, indeed, in all persons with CNS disorders. The rationale for this exclusion appears to be multifaceted. First, therapists were discouraged by the relatively meager functional responses to strength training in patients with spasticity compared with those with polio. Clinicians also feared that strong near maximal effort would exacerbate spasticity and muscle tightness in those who were already ‘stiffer’ than normal. Many also attested that impaired selective control in CP essentially prohibited performance of strengthening activities. Consequently, this approach was discarded in favor of a more direct focus on the brain. Only recently has strength testing and training experienced a resurgence in habilitation and rehabilitation programs for this population and for other spastic motor disorders. However, hesitation and even resistance to their incorporation are still encountered despite the lack of evidence to suggest that strengthening is detrimental in the presence of spasticity and accumulating evidence to support this type of exercise. The purpose of this annotation is to summarize existing research on strength testing and training, primarily focusing on CP and address the following clinical questions: (1) Can strength be measured reliably and in a valid way in cerebral palsy? (2) Is weakness a significant impairment in CP? (3) Is strength training effective in increasing force production and improving motor function and disability in CP? (4) Is strength training safe in the presence of spasticity and for children and adolescents, regardless of health status, who have an immature musculoskeletal system?

Non-ketotic hyperglycinemia (NKH), also termed glycine encephalopathy (MIM 605899), is an autosomal recessive inborn error of glycine degradation which leads to severe neurological symptoms and profound psychomotor disability. In NKH, glycine accumulates in all body fluids and tissues, including the CNS. The biochemical hallmark of NKH is increased glycine concentration in the plasma and to an even greater extent in the CSF, leading to an elevation of the CSF:plasma glycine ratio (C:PGR) to above 0.08 (normal <0.04). The fundamental defect is in the glycine cleavage system (GCS), a multienzyme complex located in the inner mitochondrial membrane of the liver, kidney, brain, and placenta. It consists of four individual protein components termed P (a pyridoxal phosphate-dependent glycine decarboxylase), H (a lipoic acid-containing hydrogen carrier protein), T (a tetrahydrofolate-dependent protein), and L (a lipoamide dehydrogenase). In more than 80% of patients the defect is in the P protein (MIM 238300), but defects in the T (MIM 238310) and H (MIM 238330) proteins have also been described. The pathogenesis of NKH is related to the properties of glycine as an excitatory neurotransmitter acting via the N-methyl-D-aspartate receptor in the cortex and an inhibitory neurotransmitter in the brainstem and spinal cord.