[Show abstract][Hide abstract] ABSTRACT: The case history of a 3-year-old boy without speech and who met 10 criteria of an autistic condition (DSM-IV) (American Psychiatric Association 1994) is reported. Psychometric evaluation, excluding the verbal scale, resulted in an IQ score of 56. The cytogenetic study showed a 20/22 translocation and an interstitial deletion within the region 22q11: 45, XY, -22, +der(20), t(20;22) (q13.3;q11.2), which was confirmed by fluorescence in situ hybridisation (FISH). Although deletions at 22q.11 are responsible for the DiGeorge syndrome; clinical, metabolic, and neurological image studies of the patient were inconsistent with this syndrome. In the clinical examination the patient presented with a mildly dysmorphic facies, pectus excavatum, and a short thumb. A 99mTc HMPAO brain perfusion SPECT showed a hypoperfusion of the left temporoparietal cortex. As there have been no previous reports of autistic patients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism or as accompanying factors.
[Show abstract][Hide abstract] ABSTRACT: The omega-3 and omega-6 long-chain polyunsaturated fatty acids (LCPUFA) are crucial to brain development and can be altered, as etiologic explanatory cofactor, both in neurological and psychiatric conditions.
Pediatric Research 08/2005; 58(2). DOI:10.1203/00006450-200508000-00090 · 2.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The omega-3 and omega-6 long-chain polyunsaturated fatty acids (LCPUFA) are crucial to brain development and can be altered, as etiologic explanatory cofactor, both in neurological and psychiatric conditions.Aim: To describe the omega-3 and omega-6 LCPUFA serum pattern in both neurological and psychiatric patients.Patients and Methods: One hundred and seventeen patients were recruited from June 2003 to December 2004. They were categorized into the following groups: Mild Mental Retardation (MR=16); Static Encephalopathy (SE=13); Progressive Encephalopathy (PE=8); Epilepsy (Ep=24); Pervasive disorder (PD=18); Attention Deficit and Hyperactive Disorder (ADHD=20); and a mixed group with recurrent headache, febrile convulsions and soft neurological signs as a Control Group (CG=11). A serum sample was analysed by gas chromatography and mass spectroscopy. Then the total omega-3 and omega-6 LC-PUFA wt/wt percentage was calculated. The Mann-Whitney U test was used to compare every group to CG.Results: 1) Omega-3: The MR group (Median=1.6; CI: 1–4.7) was significantly lower (U=39; p=0.015) than CG (Median=2.3; CI: 1.2–6.9). The SE group (Median=1.7; CI: 1.5–2.3) was significantly lower than CG (U=32; p=0.022). The PE group showed a near significance lower wt/wt % (Median=1.9; CI: 1.4–2.5) (U=23; p=0.091). The Ep, PD and ADHD groups did not show significant differences from CG.2) Omega-6: The MR group (Median=34.3; CI: 25.1–36.3) was near significance lower (U=49; p=0.056) than CG (Median=38.84; CI: 33.60–41.54). The SE group (Median=33.2; CI: 22.9–35.8) was significantly lower than CG (U=30; p=0.015). The PE group was also significantly lower (Median=30.2; CI: 19.6–35.7) (U=12; p=0.007). Again Ep, PD and ADHD groups did not show significant differences from CG.Conclusions: 1) the neurological patients except Ep tend to show omega3 and omega6 LCPUFA lower levels than controls. 2) the behavioural problem patients did not show any differences to the CG.
Pediatric Research 08/2005; 58(2). DOI:10.1203/00006450-200508000-00091 · 2.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: It has been stated that findings in neonatal neurological examinations can play a role as a pointer to adverse developmental outcome. The description of the examinations, and their presence or absence differed among authors without clear reference to their physiological variability ranges. We approached the study of some neonatal behaviours and reflexes in 143 examinations made on 113 healthy newborn babies from the maternity wards by looking at the influence that perinatal environmental factors which are considered normal, can play in these examinations. The results showed that the flexion answer of the Babinski reflex increased significantly between the first and third day of life (c2= 4.4478; p= 0.03495) in the same way there was an increase in the stepping reflex (c2= 3.999; p= 0.04552) in the righting reflex (c2= 4.9342; p= 0.02633) and in the supporting reaction (c2= 11.7874; p= 0.0006). This was significantly reduced in the caesarean section deliveries (c2= 7.1209; p= 0.0076). Head reaction was only detectable during the Brazelton behavioural states 1 to 3 (c2= 3.8911; p= 0.04854) and the same thing happened with the stepping reflex (c2= 4.9370; p= 0.02629). We discuss the utility of neonatal reflexes scoring scales in predicting the neurodevelopmental outcome of the newborn baby.
Revista de neurologia 03/2002; 34(5):481-5. · 0.83 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Long chain polyunsaturated fatty acids have beneficial effects in preterm neurophysiological development and are semi-essential. Their levels and variation in plasma and red cells in term and preterms are better known than their intestinal absorption. In this paper the absorption of supplemented arachidonic acid (AA) and docosahexaenoic acid (DHA) is evaluated in a preterm group.
Four newborn randomized groups were studied. Group T comprised 11 terms on regular formula. Preterms: group P (n=9) was on a classic preterm formula. Intervention: groups PA (n=9) and PB (n=13) were on the same formula but PB contained AA and DHA in similar proportion to breast milk. At 20 days a 3 day metabolic balance was taken for Ca, P(i), Mg, total fat and individual fatty acids (C8-C24, saturated unsaturated).
Calcium absorption was (mean+/-s.d.) 51+/-13% in terms. In preterms it was respectively 45+/-18, 38+/-11 and 37+/-21%. Total fat absorption was 92.0+/-8.0% in terms, and from 95.0+/-2.0 to 91.0+/-8.0% in preterms. Absorption of 8:0, 10:0 and 12:0 showed a very high and constant rate despite significant intake differences (715-33 mg/kg/day). Linoleic acid and alpha-linolenic acid were absorbed in the three groups at around 94% regardless of a greater LA intake in group P. Details of absorption (mg/kg/day) were: for AA, intake 17+/-7, fecal excretion 5+/-4, net retention 12+/-5 (75.0+/-18%); for DHA, intake 10+/-3, fecal excretion 3+/-2, net retention 6+/-4 (62.3+/-30%).
Intestinal absorption of fatty acids is high and is comparable in terms and preterms as regards the studied acids. Longer acids were less well absorbed. The supplemented amounts of AA and DHA were less well absorbed and probably not impairing calcium absorption.
University of Alicante, University of Miguel Hernández.
European Journal of Clinical Nutrition 10/2001; 55(9):755-62. DOI:10.1038/sj.ejcn.1601219 · 2.71 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Perinatal asphyxia (PA) and its neurologic manifestations are the most important cause of brain injury and neurologic sequelae in full-term infants. The objective of this study is to analyze the perinatal risk factors of neurologic sequelae in asphyctic term newborns.
One hundred and fifty-six consecutive asphyctic term infants were studied prospectively during 40 months. PA was graded in two stages (severe and non-severe), hypoxic-ischemic encephalopathy classification was based on Levene's criteria, and neurologic sequelae was based on Finer and Amiel-Tisson's criteria. The perinatal variables were graded as prenatal (gestational and obstetrics), neonatal (resuscitation, general data of the newborn, and organic manifestations of asphyxia) and postneonatal (neurologic sequelae with at least 24 months of follow-up). The relationships between these variables are studied by univariant and multivariant analysis (Cox's regression).
PA was graded as severe in 31 cases and non-severe in 125. Neurologic manifestations (hypoxic-ischemic encephalopathy) during neonatal period were present in 25.6%, and extraneurologic manifestations (hypoxic-ischemic disease) in 41.7% cases. The incidence of neurologic sequelae, in 115 asphyxiated full-term infants follow-up at least 24 months, was 16.5% (19 cases). The perinatal variables associated to risk of neurologic sequelae on univariate analysis are variables of neonatal resuscitation (1 minute Apgar score < or = 4, 5 minute Apgar score < or = 6, endotracheal intubation, severity of PA) and variables of systemic manifestations (hypoxic-ischemic encephalopathy, cardiovascular and multi-systemic dysfunction, and mechanical ventilation). But only two variables are independently associated on multivariate analysis: severe PA (RR = 2.82; IC = 1.07-7.39) and hypoxic-ischemic encephalopathy (RR = 4.17; IC = 1.48-11.75).
The best predictive risk factors for the neurological prognosis at follow-up are severe PA at birth and/or evidence of encephalopathy in neonatal period.
Revista de neurologia 02/2001; 32(3):210-6. · 0.83 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Mothers taking 200 g of fish per week, showed a greater content in mature breast milk of n-3 fatty acids, particularly DHA. AA was not decreased. Vitamin D content was low despite mothers were living in a sunny and temperate area. The content of 25 hydroxyvitamin D is increased in the group on fish intake, probably pointing out its marine source.
Advances in Experimental Medicine and Biology 02/2000; 478:405-6. DOI:10.1007/0-306-46830-1_49 · 1.96 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Umbilical arterial blood pH (pHUA) has become increasingly recognized as the most reliable indication of foetal oxygenation and acid-base condition at birth. In term infants pHUA is a poor predictor of newborn complications associated with perinatal asphyxia (PA), unless the pHUA is less than 7.00. The objective of this article is to analyse the neurologic evolution of asphyctic full-term newborns with severe umbilical acidosis (pHUA < or = 7.00).
One hundred and eighty consecutive asphyxiated term infants were studied during 64 months, and classified in two cohorts: G1 (pHUA < or = 7.00, n = 18) and G2 (pHUA > 7.00, n = 162). Variables prospectively obtained on standard protocol forms from the medical records were derived from a detailed review of the obstetric record, the delivery room management, the detailed neonatal clinical history and the postneonatal follow-up. The perinatal variables were graded as prenatal (gestational and obstetric), neonatal (resuscitation, general data of the newborn, and organic manifestations of asphyxia) and postneonatal (neurologic sequelae with at lest 24 months of follow-up). PA was graded as severe and non-severe, hypoxic-ischemic encephalopathy was based on Levene's criteria, and neurologic sequelae were based on Finer and Amiel-Tisson's criteria.
An umbilical artery pH value < or = 7.00 occurred in 0.3% of the total live full-term newborns. In G1 the mean pHUA value was 6.93 +/- 0.06 (range 6.80-7.00) and in G2 the mean pHUA value was 7.17 +/- 0.09 (range 7.01-7.46). The incidence of severe PA was significantly increased in G1 (RR = 4.74, CI 95% = 2.62-8.55, p < 0.001), with more postasphyctic neurologic (RR = 3.72, CI 95% = 2.34-5.92, p < 0.001) and extraneurologic (RR = 3.13, CI 95% = 1.65-5.94, p < 0.01) involvement. But we do not found differences in the incidence of neurologic sequelae between both cohorts.
Term asphyctic newborns with severe umbilical acidosis have worse evolution at short term (more clinical involvement during neonatal period), but not worse evolution at long term (neurologic sequelae). The poor correlation between umbilical acidosis and neurologic prognosis persist when pHUA cut-off is < or = 7.00.
Revista de neurologia 01/2000; 31(2):107-13. · 0.83 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The diagnosis and treatment of posterior plagiocephaly is one of the most controversial aspects of craniofacial surgery.
The purpose of this study is to describe a recent increase in the incidence of occipital plagiocephaly without synostosis in our hospital during the last 6 months. The shift in the referral patterns is roughly contemporaneous with the American Academy of Pediatrics recommendations regarding infant sleep position. The temporal coincidence of this increase with the recommendation to avoid the prone sleeping position, to reduce the risk of sudden infant death syndrome, suggests a possible causal relationship. If the association is causal, education regarding the need of head position rotation coupled with that for sudden infant death syndrome should obviate positional occipital plagiocephaly.
The feature of true lambdoid synostosis versus those of deformational plagiocephaly secondary to positional molding are inadequately described in the literature and poorly understood; the differential diagnosis is important in relation to a conservative diagnostical and therapeutical intervention in patients with positional molding.
Revista de neurologia 12/1998; 27(159):782-4. · 0.83 Impact Factor