Emma van Daalen

• University Medical Center Utrecht

Om bij kinderen al op zeer jonge leeftijd ASS op te kunnen sporen, heeft het Landelijk Netwerk Autisme Jonge Kind (LNAJK) de krachten gebundeld. Niet alleen kinderen zijn gebaat bij een vroege diagnose en behandeling; ouders kan het veel zorgen en stress besparen. Maar wat komt er zoal kijken bij zo’n vroege diagnose?

Background: Children with autism spectrum disorder (ASD) are characterized by impairments in social interaction and communication (APA, 2000). In addition, these children are known to perceive and act upon their environment differently (e.g. Gepner & Fron, 2009). According to an embodied embedded cognition account being socially skilled requires be...

Background: Repetitive and stereotypes behaviors (RSB) have received far less attention in autism research compared to deficits in the social-communicative domain (Richler, Huerta, Bishop & Lord, 2010; Lewis & Bodfish, 1998). Moreover, not much research has been done on the relationship between RSB and social communication skills (Ray-Subramanian &...

The present study examined whether atypical visual processing is related to the level of social skills in children with autism spectrum disorder (ASD). Thirty-eight young children with ASD (29 boys, 9 girls) were included. Atypical visual processing was assessed by coding the number of lateral glances and the amount of object grouping behavior on v...

This study explores parental reactions subsequent to receiving their child's autism spectrum disorder (ASD)-diagnosis. Seventy seven parents of recently diagnosed children participated in the Reaction to Diagnosis Interview. Within this group, associations between parental reaction to diagnosis, parental and child characteristics and prediagnostic...

Patients with trisomy or tetrasomy of distal 15q show a recognizable overgrowth syndrome, whereas patients with a monosomy of 15q26 share some degree of pre- and postnatal growth retardation, but differ with respect to facial and skeletal dysmorphisms, congenital heart disease and intellectual development. By reviewing 16 cases with losses of 15q26...

Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible auti...

Background: Great efforts have been put into developing methods for early identification of toddlers with autism spectrum disorder (ASD) across Europe since the Checklist for Autism in Toddlers (CHAT) was first developed in 1992. Many studies have used similar screening instruments. The administration of them, however, differs considerably.. A grou...

Recent array-based studies have detected a wealth of copy number variations (CNVs) in patients with autism spectrum disorders (ASD). Since CNVs also occur in healthy individuals, their contributions to the patient's phenotype remain largely unclear. In a cohort of children with symptoms of ASD, diagnosis of the index patient using ADOS-G and ADI-R...

This study was designed to examine morphological features in a large group of children with autism spectrum disorder versus normal controls. Amongst 421 patients and 1,007 controls, 224 matched pairs were created. Prevalence rates and odds ratios were analyzed by conditional regression analysis, McNemar test or paired t-test matched pairs. Morpholo...

A detailed visual processing style has been noted in autism spectrum disorder (ASD); this contributes to problems in face processing and has been directly related to abnormal processing of spatial frequencies (SFs). Little is known about the early development of face processing in ASD and the relation with abnormal SF processing. We investigated wh...

Recent studies have shown that more than 10% of autism cases are caused by de novo structural genomic rearrangements. Given that some heritable copy number variants (CNVs) have been observed in patients as well as in healthy controls, to date little attention has been paid to the potential function of these non-de novo CNVs in causing autism. A nor...

Many genetic studies in autism have been performed, resulting in the identification of multiple linkage regions and cytogenetic aberrations, but little unequivocal evidence for the involvement of specific genes exists. By identifying novel symptoms in these patients, enhanced phenotyping of autistic individuals not only improves understanding and d...

To study brain volumes in children with ASD as compared to children with a mental retardation or a language delay (developmentally delayed). In addition, to study the association of intellectual functioning on brain volumes in children with ASD or developmental delay. Thirty-four children with ASD and 13 developmentally delayed children without ASD...

Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present fou...

To examine the inter-rater reliability and stability of autism spectrum disorder (ASD) diagnoses made at a very early age in children identified through a screening procedure around 14 months of age. In a prospective design, preschoolers were recruited from a screening study for ASD. The inter-rater reliability of the diagnosis of ASD was measured...

Prioritizer input for the non-complex-autism patient group. The 210 CNVs identified in 53 patients with non-complex-autism were combined into 173 non-overlapping unique copy-number variant regions (CNVR) for analysis. Nucleotide positions for the CNVR start and end were based on the NCBI V35 assembly. Chr: chromosome. (0.23 MB DOC)

Summary of expression analysis by RNA in situ hybridization during murine brain development of glycobiology-related genes associated with autism. Genes from de novo occurring copy-number changes are in bold. CNS: central nervous system, PNS: peripheral nervous system, MGE: medial ganglionic eminence, DG: dentate gyrus. (0.03 MB DOC)

Prioritizer input for the complex-autism patient group. The 242 CNVs identified in 52 patients with a complex-autism phenotype were combined into 181 non-overlapping unique CNVR for analysis. Nucleotide positions for the CNVR start and end were based on the NCBI V35 assembly. Chr: chromosome. (0.25 MB DOC)

Primer sequences for real-time quantitative PCR analysis on human genomic DNA. Primers were designed using Primer3 (see methods). (0.03 MB DOC)

Primers sequences for generation of cRNA in situ hybridization probes from mouse RNA. Primers were designed using Primer3 (see methods). (0.03 MB DOC)

The recent identification of copy-number variation in the human genome has opened up new avenues for the discovery of positional candidate genes underlying complex genetic disorders, especially in the field of psychiatric disease. One major challenge that remains is pinpointing the susceptibility genes in the multitude of disease-associated loci. T...

Nadat er risico’s op de aanwezigheid van ASS zijn gesignaleerd bij een kind, is het van belang deze risico’s op een kwantitatieve manier te beoordelen. Daarvoor wordt de screeningsvragenlijst ESAT gebruikt. Deze wordt in dit hoofdstuk beschreven en de vragen tevens worden geïllustreerd aan de hand van videofragmenten.

Kinderen kunnen al vroeg in hun leven signalen vertonen die kunnen wijzen op aan ASS gerelateerde problemen in de ontwikkeling. In dit hoofdstuk zal uitleg gegeven worden over het signaleren van risico’s op dergelijke ontwikkelingsproblemen. Daarvoor zullen onder meer de zogenoemde ‘Alarmsignalen’ worden geïntroduceerd.

Veel ouders/verzorgers ervaren, net als de ouders van Imar, al vroeg problemen in de ontwikkeling van hun kind. ‘Hij is zo stil en maakt nauwelijks geluidjes’; ‘Ze reageert zo weinig op wat er om haar heen gebeurt’ en ‘Mijn kind begint maar niet met praten’. Dit zijn zomaar een paar zorgen die ouders/verzorgers kunnen uiten bij een bezoek aan, bijv...

Autisme is een ernstige neuropsychiatrische ontwikkelingsstoornis, waarbij problemen en afwijkingen in de ontwikkeling van wederkerig sociaal contact centraal staan. Deze stoornis komt al vroeg in de ontwikkeling tot uiting en beperkt het functioneren tot in de volwassenheid.

Diagnostiek van ASS bij kinderen beneden de leeftijd van vier jaar vindt bij voorkeur plaats binnen een gespecialiseerde instelling voor kinder- en jeugdpsychiatrie. De belangrijkste doelstelling in de diagnostische fase is, naast het stellen van een eventuele diagnose, het nauwkeurig in kaart brengen van de sterke en zwakke kanten binnen de ontwik...

Uit statistische gegevens blijkt dat zeker 7% van de kinderen last heeft van psychiatrische problemen waarvoor professionele behandeling noodzakelijk is. Maar slechts 2,5% maakt daar gebruik van. Het boek 'Psychiatrische stoornissen' geeft een beknopt overzicht van de meest voorkomende kinder- en jeugdpsychiatrische stoornissen. Ieder hoofdstuk is...

Background: General agreement exists on the need to identify ASD early in life. In the Netherlands nearly all children (about 98%) visit well baby clinics, where growth and development of children between age 0-4 is monitored by means of the Van Wiechen Schedule. This is a screening measure in which behavior within several domains of development (...

Background: although parents often report concerns about the development of their child as early as the second and sometimes the first year of life (De Giacomo & Fombonne, 1998; Gray & Tonge, 2001; Howlin & Asgharian, 1999), many children receive a diagnosis much later (Cox et al., 1999; Howlin & Asgharian, 1999; Charman & Baird, 2002; Lord et al.,...

Background: despite the fact that the heritability of autism is thought to be high, replication of genetic linkage and association findings across different studies has been difficult. An alternative to linkage type studies is the analysis of (cyto)genetic abnormalities that co-occur with the autism phenotype, under the assumption of a causal relat...

Background: General agreement exists about the need to identify Autistic Spectrum Disorders (ASDs) early. Objectives: Evidence supports a two-level screening strategy, with the use of primary care facilities at the first level, followed by specialist screening, and clinical evaluation at the second level. The effectiveness of this strategy in iden...

Play helps to develop social skills. Children with autism show deviances in their play behavior that may be associated with delays in their social development. In this study, we investigated manipulative, functional and symbolic play behavior of toddlers with and without autism (mean age: 26.45, SD 5.63). The results showed that the quality of inte...

Joint attention is often referred to as a triadic relation between self, other and object. Young children with autism show deficiencies in the use of joint attention behaviors. Individual differences may be expected, and they may be determined by the children's cognitive development or the characteristics of the relationship of the child with the c...

Data on the growth of the head in the first year of life in children with autism spectrum disorders are inconsistent. We measured head circumference and body length during the first year of life, and determined whether the head grew in proportion to body length. This is a case-control study nested in a population-based screening study of autism spe...

Children with Autism Spectrum Disorder (ASD) have severe and pervasive impairments in the development of social interaction, which may affect the attachment relationship with their parents and may have an impact on parenting. In the current investigation 89 families with young children (mean age 26.5 months) were involved, who were diagnosed as ASD...

Deficits in Joint Attention (JA) may be one of the earliest signs of Autism Spectrum Disorders (ASD). In this longitudinal study we investigated several types of JA behaviors at the age of 24 and 42 months, and their development over time. Eleven children with ASD, 10 children with other developmental disorders, and eight children without a develop...

To investigate cognitive development in preschool-age children diagnosed with Autistic Spectrum Disorder (ASD; N = 39) compared with that of children diagnosed with mental retardation (MR; N = 14) and normally developing children (NC; N = 36). In a prospective longitudinal study, cognitive development was tested at age 24 months (T1; SD = 6 months)...

Attachment was assessed in toddlers with Autistic Disorder (n=20), Pervasive Developmental Disorder (n=14), Mental Retardation (n=12), Language Development Disorder (n=16), and a non-clinical comparison group (n=18), using the Strange Situation Procedure (SSP). Children in the clinical groups were more often disorganized and less often securely att...

To examine the prevalence of parents' compliance with follow-up measurements after their child tested positive at a screening to assess problems in social development, as well as to find demographic, screening-related, and child-specific factors associated with parental compliance. Two-stage screening design. Utrecht, the Netherlands. A random popu...

This study on sensitivity and attachment included 55 toddlers and their parents. Samples included children with autism spectrum disorder (ASD), mental retardation, language delay, and typical development. Children were diagnosed at 4 years of age. Two years before diagnosis, attachment was assessed with the Strange Situation procedure, and parental...

The aim of the present study is to investigate whether brain metabolism of boys with autism spectrum disorder (ASD) is altered compared to boys with a developmental delay without autism if corrected for patient age and developmental level. 25 boys with ASD (with or without concurrent mental retardation) and 12 boys without ASD with mental retardati...

The aim of this study was to evaluate the prevalence of brain abnormalities in a group of young children with developmental disorders, specifically including children that came to the attention of a child psychiatrist before the age of 3 years. Forty-five children participated in an MR study (mean age 43 months, SD=12, four females). The study desi...

A two-stage protocol for screening for autistic spectrum disorders (ASD) was evaluated in a random population of 31,724 children aged 14-15 months. Children were first pre-screened by physicians at well-baby clinics using a 4-item screening instrument. Infants that screened positive were then evaluated during a 1.5-h home visit by a trained psychol...

This article describes the development of a screening instrument for young children. Screening items were tested first in a non-selected population of children aged 8-20 months (n = 478). Then, parents of children with clinically diagnosed ASD (n = 153, average age 87 months) or ADHD (n = 76, average age 112 months) were asked to score the items re...

The identification of the candidate genes for autism through linkage and association studies has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic abnormalities associated with autism. We present a review of all studies to date that relate patients with cytogenetic abnormalities to the autism phenotype. A l...

At the left side of each chromosome, linkage findings (LOD > 2.0) are indicated by blue two-dotted lines and significant association findings (P < 0.05) by red one-dotted lines. At the right side, the CROIs are represented by colored bars. Bars with the same color next to each other indicate the same CROI reported in more than one case report, thic...

Researchers and clinicians worldwide share concerns that many youngsters with attention-deficit/hyperactivity disorder (ADHD) and/or disruptive behaviour disorders (DBDs) do not receive appropriate treatment despite availability of effective therapies. At the request of Johnson and Johnson (sponsor), 11 international experts in child and adolescent...

Conducted a survey on decisions made about the use of psychotropic drugs to treat common psychiatric disorders in children and adolescents. Human Ss: 95 normal male and female Dutch adults (aged 32–82 yrs) (child and adolescent psychiatrists). Ss were mailed a questionnaire containing 16 short vignettes about hypothetical patients, aged under 12 yr...