[Series: Mental disorders in a dental practice. ADHD in children and adults]. / Serie: Psychische stoornissen in de mondzorgpraktijk. ADHD bij kinderen en volwassenen.

ADHD is common in children as well as in adults. Dental problems are more common in these individuals as they can often be forgetful and impulsive. They are less careful with their teeth and are more at risk of damage. Medication can also have side effects such as a dry mouth which is not conducive to the teeth. A number of advice are given for easier and better dental care. Timing and dosage of medication is of great importance here. Dentists can have ADHD as well, which can be a handicap in their practice.

[Glucose-6-phosphate dehydrogenase deficiency: clinical presentation and eliciting factors]. / Glucose-6-fosfaatdehydrogenasedeficiëntie: klinische presentatie en uitlokkende factoren.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a hereditary X-linked disorder, is the most common enzymatic disorder of red blood cells in humans, affecting more than 200 million people worldwide. The prevalence is increasing in the Netherlands due to immigration of people from the Middle East and Africa. We present three different clinical manifestations of G6PD deficiency: neonatal jaundice, haemolysis provoked by infection and haemolysis caused by fava beans. The pathophysiology and treatment are discussed. Furthermore a recent update of chemicals which should be avoided in G6PD deficiency is provided.

[Photographs of deceased newborn infants as documentation and as aid in mourning process for parents]. / Foto's van overleden pasgeboren kinderen voor de ouders als documentatie en als hulpmiddel bij de rouw.

The death of a newborn infant is an extremely emotional event for relatives. Many hospitals provide the parents with support, and in some cases a mourning protocol is available. Some hospitals offer parents photographs of infants which have died around birth. The photographs are often taken by a nurse or doctor on the maternity or paediatric ward. It is advisable to draw up a mourning protocol which allows professional studio photographs to be taken. As a photograph is often the only concrete memento that parents have of their baby, it is important for it to be of good quality. The parents decide what they would prefer, but it is important to point out to them that their wishes and needs immediately following the death may differ to those in the longer term.

Children with nocturnal enuresis have posture and balance disorders.

INTRODUCTION: Integration of the neuromuscular system is required for maintaining balance and adequate voiding function. Children with enuresis have delayed maturation of the motor cortex, with changes in the sensory and motor systems. Along with various alterations, including the genetic, hormonal, behavioral, and sleep disturbances, and neuromotor and sensory deficits associated with nocturnal enuresis (NE) in children and adults, a consistent alteration in the posture of children with NE has been observed in the current practice. Because posture and the balance control system are strongly connected, this study aimed to investigate posture and balance in children and teenagers with NE. MATERIAL AND METHODS: A total of 111 children with enuresis were recruited to the enuretic group (EG) and 60 asymptomatic children made up the control group (CG). The participants were divided into two age subgroups: (A) 7-11 years old, N = 77 for EG/A, N = 38 for CG/A; and (B) 12-16 years old, N = 34 for EG/B, N = 22 for CG/B. Balance was assessed using an electronic force plate (100 Hz) to calculate the area of the center of pressure (COP) displacement. The COP is the point that results from the action of vertical forces projected onto the force plate. Sensory integration was analyzed using a 60-s trial with the subject standing under four conditions: (1) eyes open, stable surface; (2) eyes closed, stable surface; (3) eyes open, unstable surface; (4) eyes closed, unstable surface. Posture was assessed by placing reflective anatomical landmarks on the anterior superior iliac spine, the posterior superior iliac spine, the greater trochanter, and lateral malleolus. A photograph was taken while the subject stood quietly. The angles were obtained from landmark connections using software to assess the following posture variables: pelvic ante/retroversion and pelvic ante/retropulsion. RESULTS: The EG showed a greater area of COP displacement compared with the CG under all four sensory conditions and both subgroups, except for EG/B in condition 3. Regarding posture, EG showed higher pelvic anteversion angles than CG. CONCLUSIONS: Enuretic children showed forward inclination of the pelvis and had worse balance compared with control children.

[Crying upon eating: the crocodile-tears syndrome]. / Huilen bij het eten: het krokodillentranensyndroom.

A male infant who, since birth, had begun to cry as soon as he began to nurse was found to have the crocodile tears syndrome. It is thought that in this condition the lacrimal glands are partially innervated by efferent fibres of the facial nerve (VII). The syndrome may be congenital, but may also be a consequence of an infection or trauma. Treatment is surgical or by the use of botulinum-A toxin.

Inheritance of Bartter syndrome.

The Bartter syndrome is regarded as an autosomal recessive trait because of sib occurrence, equal sex ratio, and normal parents. Recently, obligatory carriers were shown to have the same pattern of platelet aggregation inhibition as their affected children, possibly a reflection of altered prostaglandin action. We investigated eight patients, and their parents and sibs, and found that all persons included in the study had impaired thrombocyte aggregation. These aggregation studies support the hypothesis that the Bartter syndrome is an autosomal recessive trait.

Platelet aggregation in six families with Bartter's syndrome.

Bartter's syndrome has so far been considered to be an autosomal recessive inherited disease, because of the occurrence of the syndrome in siblings. Both sexes are equally involved. Until now no family has been described in which parents as well as children suffered from the disease. It has recently been found that 'obligatory carriers', i.e. parents of affected children, showed the same pattern of platelet aggregation inhibition as their affected children. We investigated eight patients as well as their parents and siblings, and found that all persons included in the study showed impaired thrombocyte aggregation, especially after low salt intake. We conclude that the restriction of dietary sodium facilitates the measurement of the platelet abnormality.

Carnitine deficiency, mitochondrial dysfunction and the heart. Identical defect of oxidative phosphorylation in muscle mitochondria in cardiomyopathy due to carnitine loss and in Duchenne muscular dystrophy.

Cardiomyopathies are often caused by a metabolic defect. Carnitine deficiency and mitochondrial defects in the metabolism of acyl-CoA, including defects in oxidative phosphorylation, start the same circular mechanism of mitochondrial doom. Patients with cardiomyopathy due to carnitine loss are cured by carnitine supplementation. In such a patient we found defective oxidative phosphorylation in isolated muscle mitochondria. The stimulation of the respiratory rate with all substrates by ADP was decreased, probably the cause of inhibition of the adenine nucleotide translocator by accumulating long-chain acyl-CoA. The same condition was encountered in patients with Duchenne muscular dystrophy, who often get cardiomyopathy in the course of the disease process.

[Metamorphopsia of the Alice in Wonderland-syndrome]. / Metamorfopsie of het Alice in Wonderland-syndroom.

A boy aged 9 had had two years previously and again since a few weeks complaints of observing objects with distortion and reduction in size. He was known to suffer from asthma for which he received beclomethasone in a low dosage. Physical and supplementary examinations revealed no abnormalities. The condition was diagnosed as 'metamorphopsia'.

[The Dutch Pediatric Surveillance System; a quality focused instrument for prevention and research]. / Het Nederlands Signaleringscentrum Kindergeneeskunde; een kwaliteitsinstrument voor preventie en onderzoek.

The Dutch Paediatric Surveillance System was initiated by the Dutch Paediatric Society and is housed within the TNO Prevention and Health office. The purpose of the surveillance system is (a) to gain insight on a population level into the prevalence of rare and new diseases in youths (0-18 year), and (b) to promote scientific research addressing the background, nature and prognosis, as well as the treatment and prevention, of these diseases. A monthly report card is sent to all clinically active paediatricians with maximally 10 diseases under surveillance. The response rate is approximately 90%. The information from the registration can lead to primary or secondary prevention (prevention of the disease or of its complications, respectively). The system provides information for the amelioration of quality of care and for health management and, at the same time, acts as an instrument for scientific research.

[Reduction of vertical transmission by means of perinatal prophylaxis in the case of children exposed to HIV-1 and born in the Netherlands during the period 1995-1999]. / Reductie van verticale transmissie door perinatale profylaxe bij aan HIV-1 geëxposeerde in Nederland geboren kinderen in de periode 1995-1999.

OBJECTIVE: Registration of the number of children born to HIV-infected mothers diagnosed prepartum and analysis of the efficacy of the policy for preventing mother-to-child transmission of HIV-1 in the period 1995 to 1999. DESIGN: Prospective. METHOD: On a monthly basis, Dutch paediatricians reported HIV-1 exposed children to the Dutch Paediatric Surveillance Unit. All reports were followed up with standard questionnaires. An additional retrospective study was performed because of incomplete registration. Paediatricians in centres for the care of HIV-infected patients were requested to retrospectively report HIV-exposed children. The standard questionnaires were submitted to these paediatricians. Data were collected during the period 1 January 1995-31 December 1999. RESULTS: The number of children known to be exposed to HIV-1 and for whom the mother was diagnosed prepartum, increased from 5 to 25 per year. The percentage of HIV-1 infected children decreased from 20% (1/5) to 4% (1/25). The number of pregnant HIV-1 infected women using highly active antiretroviral therapy increased during the study period from 0% (0/5) to 72% (18/25). Antiretroviral therapy was administered to 92% (23/25) of HIV-1 exposed children. In total 2% of the children received breastfeeding. CONCLUSION: Despite an increase in the number of children known to be exposed to HIV-1, a decrease in the percentage of HIV-1-infected children was observed. Of the children born in 1999 and known to be exposed to HIV-1, 4% were infected. Measures taken in the Netherlands to prevent mother-to-child transmission of HIV-1 infection are effective.

[An adolescent with paroxysmal nocturnal hemoglobinuria]. / Een adolescent met paroxismale nachtelijke hemoglobinurie.

Prompted by the case history of a 17 year old girl with anaemia, mononucleosis infectiosa and abdominal pain, paroxysmal nocturnal haemoglobinuria (PNH) is described. After a mononucleosis infectiosa infection she developed many complications of which the most prominent were hemolysis and thrombosis. Severe abdominal pain and episodic bowel obstruction occurred as a result of micro-infarction of the mesentery; bone marrow aplasia and lysis of platelets resulted in progressive thrombopenia. Pathogenesis and therapeutical possibilities are discussed. Coexistence of a necrotising enterocolitis with rectovaginal fistula, a heart infarction and the striking weight loss and hyponatremia during exacerbations, as seen in our patient, have not previously been described in PNH.

[Rhesus antagonism, sometimes different from usual]. / Rhesus-antagonisme, soms anders dan gebruikelijk.

We describe three children with an active rhesus antagonism. However, laboratory results and course were different than usual. The first child had blood-type O positive, while his mother had blood-type O positive as well. The mother of the second child had blood-type A negative, while the child seemed to be A negative too. The third child needed an exchange transfusion due to a 'regular' rhesus antagonism, but died shortly after. The mother of the first child turned out to have a rhesus D VI variant. The second child had a 'blocked' D-antigen due to excess anti-D antibodies. The illness of the third child looked like Graft versus Host disease clinically, but eventually appeared to have congenital myelofibrosis. A correct diagnosis in these children is of great importance in future pregnancies, blood transfusions and genetic counseling.

[Pathogenesis and pathophysiology of carnitine deficiency, a predictable risk]. / Pathogenese en pathofysiologie van carnitinedeficiëntie, een voorspelbaar risico.

When patients suffer from hepato-encephalopathy, (cardio)myopathy, dystrophy, hypoglycaemia, some metabolic diseases and several other disease states, carnitine deficiency should be considered. In this article a survey is given of the pathophysiology, laboratory diagnostics, clinical symptomatology and some therapeutic approaches. Some different cases will be demonstrated.

[Early amnion rupture as a cause of multiple congenital abnormalities in the newborn infant]. / Vroege amnionruptuur als oorzaak van multipele congenitale afwijkingen bij de pasgeborene.

We describe two children with congenital deformities due to the early amniotic rupture syndrome. One child who had an amniotic band around the upper arm suffered from a distal nerve lesion. This was relieved following surgery. The second child died shortly after birth of multiple congenital malformations. The most usual findings in this syndrome are constriction of a limb by an amniotic band, scoliosis or syndactyly due to oligohydramnion with compression. We discuss one accepted hypothesis (subscribed by an experimental animal study) of the aetiology of the early amniotic rupture syndrome.

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.

Acquired demyelinating syndromes (ADS) can be a first presentation of multiple sclerosis (MS) in children. The incidence of these disorders in Europe is currently unknown. Children (<18 years old) living in the Netherlands who presented with ADS were included from January 1, 2007 to December 31, 2010 by the Dutch pediatric MS study group and the Dutch surveillance of rare pediatric disorders. Demographic and clinical data were collected. Eighty-six patients were identified over 4 years, resulting in an incidence of 0.66/1,00,000 per year. Most patients presented with polyfocal ADS without encephalopathy (30%), followed by polyfocal ADS with encephalopathy (24%), optic neuritis (ON, 22%), monofocal ADS (16%), transverse myelitis (3%), and neuromyelitis optica (3%). Patients with polyfocal ADS with encephalopathy were younger (median 3.9 years) than patients with ON (median 14.6 years, p < 0.001) or monofocal ADS (median 16.0 years, p < 0.001). Patients with polyfocal ADS without encephalopathy (median 9.2 years) were also younger than monofocal ADS patients (median 16.0 years, p < 0.001). There was a slight female preponderance in all groups except the ON group, and a relatively large number of ADS patients (29%) reported a non-European ancestry. Familial autoimmune diseases were reported in 23%, more often in patients with relapsing disease than monophasic disease (46 vs. 15%, p = 0.002) and occurring most often in the maternal family (84%, p < 0.001). During the study period, 23% of patients were subsequently diagnosed with MS. The annual incidence of ADS in the Netherlands is 0.66/1,00,000 children/year. A polyfocal disease onset of ADS was most common.