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PubMed1995

Is there really a syndrome involving the co-occurrence of neurodevelopmental disorder talent, non-right handedness and immune disorder among children?

This paper is the first large-scale attempt to test Geschwind and Galaburda's (1985a, 1985b, 1985c) hypothesis that there should be a four-way association among neurodevelopmental disorders (NDs), special talents, non-right handedness, and immune disorders. In a sample of 11,578 children, several two-way associations were found, but not those most strongly predicted by the theory. For example, non-right handedness was not associated with NDs considered to be secondary to left hemisphere dysfunction (e.g., articulation disorder, reading disability, verbal aptitude deficits). Instead, non-right handedness was associated with NDs that involve generalized brain damage (e.g. cerebral palsy, mental retardation, and seizures). One immune disorder (asthma) was associated with one ND (attention deficit disorder); immune disorder was not associated with non-right handedness. Less than 1% of this sample manifested the co-occurrence of any three or four of these markers. In sum, there was little evidence in support of the syndrome suggested by Geschwind and Galaburda (1985a, 1985b, 1985c).

Aptitude↗

PubMed2006

Omega-3 fatty acids in ADHD and related neurodevelopmental disorders.

Omega-3 fatty acids are dietary essentials, and are critical to brain development and function. Increasing evidence suggests that a relative lack of omega-3 may contribute to many psychiatric and neurodevelopmental disorders. This review focuses on the possible role of omega-3 in attention-deficit/hyperactivity disorder (ADHD) and related childhood developmental disorders, evaluating the existing evidence from both research and clinical perspectives. Theory and experimental evidence support a role for omega-3 in ADHD, dyslexia, developmental coordination disorder (DCD) and autism. Results from controlled treatment trials are mixed, but the few studies in this area have involved different populations and treatment formulations. Dietary supplementation with fish oils (providing EPA and DHA) appears to alleviate ADHD-related symptoms in at least some children, and one study of DCD children also found benefits for academic achievement. Larger trials are now needed to confirm these findings, and to establish the specificity and durability of any treatment effects as well as optimal formulations and dosages. Omega-3 is not supported by current evidence as a primary treatment for ADHD or related conditions, but further research in this area is clearly warranted. Given their relative safety and general health benefits, omega-3 fatty acids offer a promising complementary approach to standard treatments.

Attention Deficit Disorder with Hyperactivity↗

PubMed2025

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

We recently showed that mutations in RNU4-2 and RNU2-2, two genes that are transcribed into small nuclear RNA (snRNA) components of the major spliceosome, are prevalent causes of dominant neurodevelopmental disorders (NDDs). By genetic association comparing 12,776 NDD cases with 56,064 controls, we now demonstrate the existence of a recessive form of RNU2-2 syndrome that, in England, is even more common than the dominant form. We inferred log Bayes factors for dominant and recessive models of association of 14.0 and 18.2, respectively, and observed 17 rare variants with a posterior probability of pathogenicity conditional on recessive association >0.8. This conservative threshold identified 18 probands (all with unaffected parents) and five affected siblings, each carrying two alleles in trans at these variants. A relaxed threshold of >0.6 identified a further 13 candidate probands. We estimate that recessive RNU2-2 syndrome accounts for 7-10% of families with a diagnosed recessive NDD, and is 36-62% as prevalent as the dominant RNU4-2-related disorder ReNU syndrome. We identified a further seven cases in five pedigrees in two replication collections. Cases are characterized by intellectual disability, global developmental delay and seizures. The variants are predicted to destabilize stem loops and binding domains of the U2-2 snRNA that contribute to spliceosome quaternary structure, intron recognition and catalytic function. Despite this, whole-blood derived RNA-seq data from three patients did not reveal splicing defects, in line with previous analogous observations for dominant RNU2-2 syndrome.

Journal Article↗

PubMed1996

A re-examination of the sex ratios of families with a neurodevelopmentally disordered child.

It has been claimed that mothers with certain hormonal imbalances and/or immunological disorders are more likely to give birth to male than female children and that they are more likely to give birth to a neurodevelopmentally disordered (ND) child. Liederman and Flannery (1995) reported that the sex ratio of families with an index ND child did not significantly differ from the sex ratio of families without an index ND child. The data were derived from the National Collaborative Perinatal Project (NCPP). James (in the current issue) challenged us to reconsider the standard against which we judged the sex ratio of siblings of ND children, since the 1.10 sex ratio that we obtained for the siblings of non-ND children is much higher than the sex ratio of children born during that period according to the U.S. Census Bureau. In the current paper, the NCPP data were reexamined and it was demonstrated that the high sex ratio of siblings in our non-ND sample was not due to various retention or recruitment biases. Thus, we suggest that use of the sex ratio of siblings of non-ND children was the proper standard against which to judge the sex ratio of ND families, and that our data provide no evidence to support the notion that these families are male biased.

Bias↗

PubMed2003

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.

Adult↗

PubMed2006

Practitioner review: short-term and working memory impairments in neurodevelopmental disorders: diagnosis and remedial support.

BACKGROUND: This article provides an introduction to current models of working and short-term memory, their links with learning, and diagnosis of impairments. The memory impairments associated with a range of neurodevelopmental disorders (Down's syndrome, Williams syndrome, Specific Language Impairment, and attentional deficits) are discussed. METHODS: Methods of alleviating the adverse consequences of working and short-term memory impairments for learning are identified. CONCLUSION: Impairments of short-term and working memory are associated with learning difficulties that can be substantial, and that can be minimised by appropriate methods of remedial support.

Attention Deficit Disorder with Hyperactivity↗

PubMed2000

Sleep apnea treatment improves seizure control in children with neurodevelopmental disorders.

Seizure disorder and sleep apnea are common chronic disorders in children, but the relationship between sleep apnea and seizure control has not been studied in the pediatric population. This retrospective review included nine children with neurodevelopmental disorders who had well-documented sleep apneic episodes and seizure disorders. Seizure frequency was reduced in five patients (56%) in the first 12 months after sleep apnea treatment without changes in their antiepileptic medications. Sleep apnea can be one of the seizure precipitants in children with epilepsy. This study indicates the importance of identifying sleep apnea when treating children with intractable epilepsy, particularly in those who are at high risk.

Anticonvulsants↗

PubMed1983

Serum levels of radioreceptor-assayable somatomedins in children with minor neurodevelopmental disorders.

The somatomedins are a family of multitarget, growth-promoting hormones suggested to play a regulatory role in the central nervous system. Serum concentrations of somatomedins were determined by a radioreceptor assay in 26 patients (19 boys and 7 girls) with minor neurodevelopmental disorders. Five of these 26 patients showed high serum levels (greater than 2 S.D.) of somatomedins. It is concluded that patients with elevated concentrations of somatomedins might represent a pathogenetic subgroup.

Adolescent↗

PubMed2006

Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder.

BACKGROUND: Imprinted genes are considered to play an important role in growth and early development but much of the research is based on animal studies. AIM: This study reports clinical data from a French population concerning prenatal, perinatal and postnatal complications in Prader-Willi syndrome (PWS), a genetically imprinted neurodevelopmental disorder associated with growth retardation, intellectual impairment and obesity. STUDY DESIGN: Data from family health records concerning prenatal, perinatal and postnatal complications were collected from 52 French people with the deletion form (DEL), and 34 French people with the maternal disomy form of PWS (UPD) and compared against national norms and between groups. RESULTS: Significant findings include: a history of miscarriage, high rate of polyhydramnios (12/34 UPD, 11/52 DEL), a high rate of induced labour, a high rate of Caesarian section (20/34 UPD, 26/52 DEL), small gestational age (10/34 UPD, 22/52 DEL), hypotonia (34/34 UPD, 49/52 DEL), and suckling deficit (25/34 UPD, 46/52 DEL). Significant differences between genetic subtypes include a higher rate of induced labour in UPD (27/34 UPD, 25/52 DEL), an increased risk of premature term in UPD (9/34 UPD vs. 4/52 DEL), raised maternal age in UPD (36.4 years vs. 29.3 years), low birth weight for newborns with a deletion form of PWS (girls 2.8 kg, boys 2.7 kg), a positive correlation between parental weight and offspring birth weight only for patients with UPD (UPD maternal: r=0.62, paternal: r=0.51). CONCLUSION: The results indicate significant intrauterine disturbance in PWS, particularly in PWS due to UPD, but a more significant weight disturbance for PWS due to deletion.

Adolescent↗

PubMed2005

Neuropathological examination of fetal rat brain in the 5-bromo-2'-deoxyuridine-induced neurodevelopmental disorder model.

The majority of prior developmental neurotoxicity studies focused on postnatal subjects rather than on the fetus. In the present paper, we demonstrate the use of histological examination of fetal rat (embryonic day 16.5) brain serial sections, employing Nissl staining and microtubule-associated protein 2 (MAP2) immunohistochemistry, in evaluating a chemical-induced neurodevelopmental disorder. Since prenatal treatment with 5-bromo-2'-deoxyuridine (BrdU) is known to induce behavioral abnormalities such as locomotor hyperactivity in offspring, pregnant rats were administered 50 mg/kg on gestation days 9.5 through 15.5. The fetal brains at embryonic day 16.5 were collected and processed for neuropathological study. Cell death, including DNA strand breaks, was observed in specific areas of the fetal brain such as the neuroepithelium, intermediate zone and/or differentiating zones (e.g. neocortex and striatum) in exposed fetuses. In addition, the neocortex had an abnormal appearance cortical plate, which was also detected by MAP2 immunohistochemistry. The abnormal cortical plate was observed consistently, while the grade of cell death was generally very mild and variable. No significant alteration was detected in the brainstem. The present study reveals that histological observation of the fetal brain includes sensitive endpoints in developmental neurotoxicity, and that BrdU, at a dose generally administered to label proliferating cells, affects the development of the fetal neocortex.

Abnormalities, Drug-Induced↗

PubMedDate not supplied

Fatty acid metabolism in neurodevelopmental disorder: a new perspective on associations between attention-deficit/hyperactivity disorder, dyslexia, dyspraxia and the autistic spectrum.

There is increasing evidence that abnormalities of fatty acid and membrane phospholipid metabolism play a part in a wide range of neurodevelopmental and psychiatric disorders. This proposal is discussed here in relation to attention-deficit/hyperactivity disorder (ADHD), dyslexia, developmental coordination disorder (dyspraxia) and the autistic spectrum. These are among the most common neurodevelopmental disorders of childhood, with significant implications for society as well as for those directly affected. However, controversy still surrounds both the identification and management of these conditions, and while their aetiology is recognized as being complex and multifactorial, little progress has yet been made in elucidating predisposing factors at the biological level. An overview is provided here of the contents of this Special Issue, which contains a selection of reports from a unique multidisciplinary workshop involving both researchers and clinicians. Its purpose was to explore the possibility that ADHD, dyslexia, dyspraxia and autism fall within a phospholipid spectrum of disorders. This proposal could explain the high degree of co-morbidity between these conditions, their aggregation within families and relation to other psychiatric disorders, and a range of associated features that are already well known at a clinical level. The existing evidence for fatty acid abnormalities in these disorders is summarized, and new approaches are outlined that have the potential to improve both the identification and the management of these and related neurodevelopmental and psychiatric conditions.

Attention Deficit Disorder with Hyperactivity↗

PubMed1993

Peroxisomal disorders. Neurodevelopmental and biochemical aspects.

The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesis and/or from dysfunction of single or multiple peroxisomal enzymes. Because peroxisomes are involved in the metabolism of lipids critical to the functioning of the nervous system, many of the peroxisomal disorders manifest with significant degrees of progressive psychomotor dysfunction. These disorders should be considered in the differential diagnosis of the infant with hypotonia and psychomotor delay (especially if accompanied by facial dysmorphisms, hepatomegaly, cataracts and/or retinitis, calcific stippling, short limbs, or combinations of these features), in the school-aged child with progressive neurologic dysfunction, and in adults with slowly progressive motor dysfunction. Current knowledge of peroxisomal biochemical and enzymatic processes permits precise identification of particular disorders within the peroxisomal disorder grouping. An effort should be made to identify the specific peroxisomal disorder to provide a precise explanation for neurodevelopmental deficits, to potentially prevent recurrence through genetic counseling, and to provide appropriate therapies when available.

Acetyl-CoA C-Acyltransferase↗

PubMed2002

The Toronto experience in diagnosing alcohol-related neurodevelopmental disorder: a unique profile of deficits and assets.

BACKGROUND: Fetal alcohol syndrome (FAS), which involves the triad of features reflecting facial dysmorphology, growth retardation and intellectual impairments, encompasses a relatively small proportion of the children affected prenatally by alcohol. Unfortunately, in the absence of facial dysmorphology, the diagnosis is difficult in the majority of children, who are considered to have alcohol-related neurodevelopmental disorder (ARND). Because accepted clinical methods are not pathognomonic, a novel profile approach was used to examine neuropsychological abilities and disabilities to identify children with ARND who do not meet the diagnostic criteria of FAS. OBJECTIVE: To establish a set of criteria, to be validated in future studies, for characterizing the neuropsychological profile of children with ARND. By describing the procedures at this preliminary stage of our work, the goal is to draw attention to this neglected topic and to suggest a model that can be replicated and validated by others, and to provide the first systematic clinical report on diagnosing ARND in Canada. PROCEDURES: On the basis of the literature, parents' descriptions and the authors' own experience with ARND, a profile of neuropsychological characteristics, including both deficits and assets, that are associated with prenatal alcohol exposure was hypothesized. A group of children was then evaluated, mostly adoptees or children in foster care, who were referred for learning and behavioural problems potentially associated with gestational exposure. Their results were submitted to a profile analysis by comparing their deficits and assets according to a list describing a hypothetical ARND profile to determine whether each child fit or did not fit the ARND profile. Groups were compared for background characteristics, FAS symptomatology, and results on specific neuropsychological and behavioural tests. Finally, the characteristics most strongly differentiating the two groups were identified. SETTING: Hospital-based outpatient program. PARTICIPANTS: Fifty-two children aged four to 18 years who were referred for a diagnostic assessment related to suspected or known prenatal alcohol exposure. OUTCOME MEASURES: Each child's assessment results were compared against a list of 21 deficits and six assets by two independent raters. Children with an average of more than 60% deficits and 50% assets were considered to have ARND, while the remainder were not. RESULTS: Twenty-eight children (54%) were assigned to the ARND group and 24 to the non-ARND group. The groups did not differ in physical features or home background characteristics, with the exception of higher parental intelligence quotient in the non-ARND group. The ARND group was more likely to have repeated a grade or received special education and scored lower on standardized measures of intelligence, language and memory abilities. Frequency of behaviour or social problems were equivalent in both groups. CONCLUSIONS: A profile approach used to identify children with ARND discriminates problems in neuropsychological but not behavioural domains. Because elevated scores on behavioural tasks in both ARND and non-ARND groups were clinically significant, more research is needed to identify what behavioural problems are unique to children with ARND compared with other clinic-referred children.

Adolescent↗

PubMed2026

Recall-by-genotype of neurodevelopmental disorder copy number variants in a multi-ancestry, healthcare-system biobank.

Clinical biobanks linking electronic health records (EHRs) with genotype data enable the study of genomic risk factors in real-world populations. However, recall-by-genotype (RbG) of psychiatric risk variants in diverse healthcare-system biobanks remains scarce. Leveraging BioMe, a multi-ancestry biobank within the Mount Sinai Health System, we recalled carriers of rare copy number variants (CNVs) that confer increased risk for neurodevelopmental disorders (NDDs) to establish empirical benchmarks for RbG implementation. We recontacted 892 participants: 335 NDD CNV carriers, 217 individuals with schizophrenia without NDD CNVs, and 340 neurotypical controls without NDD CNVs. Participants completed clinical and cognitive assessments. Overall, 18% of recontacted participants responded to recruitment, and 8% completed the study: 30 NDD CNV carriers, 20 individuals with schizophrenia, and 23 controls. The mean age was 48.8 years, 66% were female, and self-reported ancestry was 37% African, 34% Hispanic, and 26% European. Seventy percent of NDD CNV carriers had at least one neuropsychiatric or developmental condition, including mood or anxiety disorders (40%). Among 22 NDD CNV carriers at loci implicated in impaired cognition, performance was lower than controls on Digit Span Backward (β = -1.76, FDR = 0.04) and Digit Span Sequencing (β = -2.01, FDR = 0.04). NDD CNV carriers also outperformed the schizophrenia group on verbal learning (β = 4.5, FDR = 0.05). Recall of individuals-including those with psychiatric illness-yielded phenotypes not captured in EHRs and provides empirical benchmarks relevant to RbG implementation and precision psychiatry in diverse healthcare systems.

Journal Article↗

PubMed1983

Three-year follow-up at age 10 of children with minor neurodevelopmental disorders. I: Behavioural problems.

Sixty-one children selected from a total population study of six-year-old children in Gothenburg and diagnosed as suffering from minimal brain dysfunction (MBD), motor perception dysfunction (MPD) or attention deficit disorder (ADD), and 51 normal control children were followed up at age 10 for behavioural problems. According to teachers', parents' and self-rating questionnaires, the index children, especially those with MBD, showed extremely high rates of severe behavioural/experiential problems at follow-up. None had been treated with stimulants or other drugs directed at alleviating the symptoms of the neurodevelopmental disorder. It is argued that the high rates of disturbances according to the questionnaire ratings are a true reflection of the psychiatric ill-health in these children.

Attention Deficit Disorder with Hyperactivity↗

PubMed2006

[Review of neurobehavioral effects of alcohol-related neurodevelopmental disorder in an animal model].

Animal models had been investigated to clear the mechanism of neurobehavioral deficits caused by in-utero alcohol exposure. 5-HT1A agonist and antioxidants administration during pregnancy could attenuate in-utero alcohol-induced teratogenesis. Recently, activity-dependent neuroprotective peptides were reported to have the potential therapeutic effect for alcohol-related teratogenicity. Environmental and motor training for litters exposed to in-utero alcohol may have improve behavioral performance. We will review amelioration of fetal alcohol-related neurodevelopmental disorders in animal models from the prevention and treatment.

Animals↗

PubMed1989

Children with preschool minor neurodevelopmental disorders. IV: Behaviour and school achievement at age 13.

A cohort of children with deficits in attention, motor control and perception at seven years, drawn from a total population sample of such children in Göteborg, Sweden, was compared at 13 years with a group of normal children with regard to behaviour and school achievement. The index group showed persisting high rates of severe behavioural problems, as judged by teachers', parents' and self-rating questionnaires. None had been treated with stimulants or other drugs to reduce the symptoms of their neurodevelopmental disorders. It seems that these children's problems were slightly less in the early teen years than they were at 10 years, but the rates were still much in excess of those in the comparison group.

Achievement↗

PubMed2026

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in gene regulation in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 16 de novo pathogenic variants in PCBP1 across 17 subjects from 16 unrelated families. All affected individuals exhibited intellectual disability (ID), with autism spectrum disorder (ASD) as a prominent feature. Functional analysis in primary hippocampal mouse neuron cultures indicated that PCBP1 variants impair dendritic arborization, underscoring their deleterious effects. Transcriptomic profiling by RNA sequencing of subject-derived T cells showed a distinctive signature characterized by significantly increased exon skipping. These results highlight the contribution of PCBP1 in neurogenesis and neuritogenesis, which is impacted by loss-of-function variants expressed in neuronal cells, thereby supporting the link between splicing defects and neurodevelopmental disorders. Collectively, our findings demonstrate the prominent role of PCBP1 in neurodevelopment, reaffirming the importance of splicing regulation in mammalian neurodevelopment.

Journal Article↗