When dysfunctions occur at one or more stages of nervous system development, so-called childhood neurodevelopmental disorders arise. These disorders lead to, or coexist with, other medical, emotional, and, importantly, neuropsychological conditions.
This post focuses on describing the neuropsychological consequences of some childhood neurodevelopmental disorders. It then describes at least one childhood neurodevelopmental disorder of each type, focusing on the neuropsychological effects of the condition.
Childhood neurodevelopmental disorders
Childhood neurodevelopmental disorders are varied and are defined mainly on the basis of different precipitating factors: the cause, the age of onset and/or detection, and the symptoms. There are also other key points in defining childhood neurodevelopmental disorders, such as the mother’s age, possible problems during pregnancy, genetics, and the perinatal and postnatal environment.
The classification on which several authors agree includes:
- Specific childhood neurodevelopmental disorders, which are included in the DSM-5 (Diagnostic and Statistical Manual of Mental Disorders). These include ADHD, communication disorders, and ASD, among others.
- Early-onset childhood neurodevelopmental disorders, such as anencephaly, hydrocephalus, etc.
- Childhood neurodevelopmental disorders due to genetic variations, for example, Down syndrome, Williams syndrome, and Angelman syndrome.
- Finally, childhood neurodevelopmental disorders due to environmental factors, such as fetal alcohol syndrome or valproic acid embryopathy.
Many studies have described the neuropsychological effects of the childhood neurodevelopmental disorders in the first group because of their close relationship with cognition. However, the literature on the neuropsychology of the other neurodevelopmental disorders is not as extensive, even though neuropsychologists need to know these symptoms in order to offer patients comprehensive treatment.
Specific childhood neurodevelopmental disorders
For some years now, a number of studies have examined the neuropsychological effects associated with brain disorders in children. ASD is one of the most studied childhood neurodevelopmental disorders, both clinically and in research, especially in high-income countries such as Spain. In order of incidence, the main neurodevelopmental disorders in this group are ASD, ADHD, intellectual disability, communication disorders, and learning disorders. The disorders with the highest incidence are therefore ASD and ADHD.
ASD and its associated neuropsychological effects
Along with ADHD, ASD is the most prevalent childhood neurodevelopmental disorder in Spain. The term currently includes other disorders, specifically autism, pervasive developmental disorder not otherwise specified, and Asperger syndrome.
Although the main cause of these diagnoses is not yet known, the leading hypotheses focus on a genetic cause. For this reason, ASD is highly specific as a disorder and highly individual from patient to patient. In other words, it has characteristic symptoms that make it easy to distinguish from other childhood neurodevelopmental disorders. However, no two patients with ASD are the same, since the patient’s personal development, support (family, school, social, etc.), and the presence or absence of intellectual disability are modulating factors in how ASD develops. This must be taken into account in each patient’s intervention. Even though every patient with ASD is unique, diagnosis is usually made early, between 12 and 24 months. Diagnosis includes physical medical tests, genetic assessments, and a battery of neuropsychological and psychosocial assessments.
The most common neuropsychological effects in ASD are those related to communication, including thought and language. Some perceptual-motor skills and executive functions are also impaired. A complete neuropsychological assessment protocol should be used to determine which cognitive abilities are impaired or preserved. Regarding intervention, the American Psychological Association has proposed that only intervention protocols with a solid empirical basis be used, delivered by experienced professionals.
Early-onset childhood neurodevelopmental disorders
These are disorders that arise during the formation and development of the fetal nervous system. The type of childhood neurodevelopmental disorder and its associated consequences depend on the stage at which the problem occurs. Early-onset childhood neurodevelopmental disorders can be classified according to the stage of nervous system development at which the abnormality occurs (neural tube closure, proliferation, migration) or according to the part of the brain most affected, as in cranial malformations.
The childhood neurodevelopmental disorders whose neurocognitive profile has been studied most are those that occur during neural tube closure.
Hydrocephalus and its associated neuropsychological effects
Hydrocephalus is a childhood neurodevelopmental disorder that usually appears before or around birth. Specifically, it is a disproportionate buildup of cerebrospinal fluid (CSF), which affects the size of the head and brain development.
One of the most common causes is a brain tumor that displaces structures and prevents the CSF from draining properly. It can also result from a brain hemorrhage during fetal neurodevelopment. In many cases, however, it is due to a congenital defect. Since it is an early-onset neurodevelopmental disorder, diagnosis is based mainly on neurological imaging techniques that estimate the amount of extra CSF and the parts of the brain most affected. Primary intervention requires neurosurgery, since a shunt must be inserted in the brain to drain the excess fluid.
The neuropsychological effects of hydrocephalus depend on the degree of brain compression caused by the excess CSF. Some studies have shown that these patients have impaired perceptual-motor skills, with problems in visual function, specifically visuoconstructive ability. They also have impairments in working memory, which requires controlling and inhibiting information, and some executive functions, such as planning, are also affected. The use of pragmatic language is also affected in this diagnosis. For this reason, the neuropsychologist should work on these cognitive functions with the patient after recovery from neurosurgery to ensure that the new brain configuration without the extra CSF allows these skills to develop as well as possible.
Childhood neurodevelopmental disorders due to genetic variations
Genes shape the biological characteristics of human beings, including both the biological and the cognitive side. Genetics also plays a key role in brain development, guiding the evolution of the brain not only of the species but of each individual within it. These disorders arise when a genetic abnormality occurs during brain development. The most common genetic disorders include Down syndrome, Williams syndrome, Angelman syndrome, Sanfilippo syndrome, and fragile X syndrome. Here we will describe Williams syndrome, since it has a characteristic cognitive profile.
Williams syndrome and its associated neuropsychological effects
It is a rare genetic disorder compared with Down syndrome. This syndrome is highly specific and affects several fundamental cognitive functions. This childhood neurodevelopmental disorder is caused by a microdeletion on chromosome 7, which leads to conditions in different body systems, such as heart malformations and metabolic problems involving different substances. It also produces characteristic phenotypic features, such as “elfin” facial features.
Diagnosis is made early, and children usually receive intervention from an early age, with neurological, physical, and behavioral examinations. Early detection of this childhood neurodevelopmental disorder is essential, since numerous studies have shown that early intervention can help preserve certain cognitive abilities.
In the neuropsychological sphere, professionals need to understand the disorder and establish an individualized cognitive profile because, although it is associated with moderate to severe intellectual disability, some abilities, such as language and memory, are preserved. For example, they recognize faces easily, are sensitive to sounds, and tend to form emotional bonds. However, they show impaired visuospatial and/or visuoperceptual skills. Therefore, the neuropsychologist is advised to use a neuropsychological assessment battery focused on perceptual skills (visual, auditory, sensory, etc.) to establish the patient’s neuropsychological strengths and weaknesses and develop their intervention plan.
Childhood neurodevelopmental disorders due to environmental variations
When childhood neurodevelopmental disorders result from factors in the environment, a causal relationship is assumed as a hypothesis, although this can’t always be proven.
The nervous system begins to develop in the first weeks of pregnancy (at around 21 days) and progresses through different stages, some more sensitive than others. Exposure of the nervous system to certain toxic agents or pathogens during some of these stages has been shown to lead to neurodevelopmental disorders. The source of toxicity doesn’t always come from the pregnant mother (alcohol, tobacco, mental health problems, etc.); it can also be present in the environment where she lives during pregnancy, for example, exposure to xenobiotic substances from industrial, agricultural, or urban activity in the surrounding area. Factors harmful to the developing nervous system, exposure to which can cause irreversible effects, include tobacco, alcohol and solvents, mercury, lead, and poverty.
Fetal alcohol syndrome and its associated neuropsychological effects
This syndrome is part of fetal alcohol spectrum disorder (FASD), a broader concept that groups together all the possible diagnoses with symptoms experienced by a child exposed to alcohol during prenatal development.
The cause is well known, since exposure to alcohol during prenatal life is the main cause of malformations during nervous system development, as mentioned above.
Symptoms associated with a diagnosis of FAS include delayed systemic growth, especially of the brain, which leads to changes at the synaptic level and in the formation of structures. Craniofacial malformations are also very characteristic of these patients, leading to significant cognitive and behavioral problems. Some patients also have problems with height and weight, and clinical seizures are also common.
In the neuropsychological sphere, specific cognitive areas are affected, and learning problems are very common in these patients. The most common studies highlight severe problems in processing, verbal comprehension, perceptual reasoning, and visuospatial reasoning, along with behavioral disorders with defiant traits and the breaking of rules and limits. Although more and more is known about the neurocognitive profile of FAS, a specific profile has not yet been established for this syndrome, since some dysfunctions are masked by other emotional disorders caused by a lack of attachment or the feeling of abandonment that most of these patients experience from an early age. That’s why the neuropsychologist should use a standard neuropsychological assessment battery and work from the patient’s deficits and strengths with both the patient and the family.
Conclusions
Although there is no stable classification for breaking down childhood neurodevelopmental disorders, this post has described some of these disorders according to their etiology, stage of onset, and comorbid consequences.
One disorder within each type has been described, with special emphasis on the neuropsychological effects involved, so that neuropsychologists have more information about them and can carry out the work ahead of them, not only in the neurodevelopmental disorders included in the DSM-5, which are the best known, but also in other disorders resulting from a genetic or environmental malformation, or those of early onset.
References
Betts, J., Dawe, S., Eggins, E., Shelton, D., Till, H., Harnett, P., & Chandler‐Mather, N. (2019). PROTOCOL: Interventions for improving executive functions in children with Fetal Alcohol Spectrum Disorder: Systematic review and meta‐analysis. Campbell Systematic Reviews, 15(1-2), e1009.
Braconnier, M. L., & Siper, P. M. (2021). Neuropsychological assessment in autism spectrum disorder. Current Psychiatry Reports, 23(10), 1-9.
De la Torre, G. G., Martin, A., Cervantes, E., Guil, R., & Mestre, J. M. (2017). Attention lapses in children with spina bifida and hydrocephalus and children with attention-deficit/hyperactivity disorder. Journal of clinical and experimental neuropsychology, 39(6), 563-573.
García, R. J. G., & Agramonte, M. D. L. Á. R. (2020). Comorbilidad en pacientes con trastornos del neurodesarrollo. Revista Cubana de Pediatría, 92(4).
Gonzalvo, G. O. (2011). Frecuencia del síndrome alcohólico fetal en niños institucionalizados de países de Europa del Este. Revista de neurología, 53(2), 127-128.
Klein-Tasman, B. P., van der Fluit, F., & Mervis, C. B. (2018). Autism spectrum symptomatology in children with Williams syndrome who have phrase speech or fluent language. Journal of autism and developmental disorders, 48(9), 3037-3050.
Lange, S., Shield, K., Rehm, J., Anagnostou, E., & Popova, S. (2019). Fetal alcohol spectrum disorder: Neurodevelopmentally and behaviorally indistinguishable from other neurodevelopmental disorders. BMC psychiatry, 19(1), 1-10.
Lense, M. D., Ladányi, E., Rabinowitch, T. C., Trainor, L., & Gordon, R. (2021). Rhythm and timing as vulnerabilities in neurodevelopmental disorders. Philosophical Transactions of the Royal Society B, 376(1835), 20200327.
Livingston, L. A., & Happé, F. (2017). Conceptualising compensation in neurodevelopmental disorders: Reflections from autism spectrum disorder. Neuroscience & Biobehavioral Reviews, 80, 729-742.
More bibliographic references
- Mattson, S. N., Crocker, N., & Nguyen, T. T. (2011). Fetal alcohol spectrum disorders: neuropsychological and behavioral features. Neuropsychology review, 21(2), 81-101.
- Mikkelsen, R., Rødevand, L. N., Wiig, U. S., Zahl, S. M., Berntsen, T., Skarbø, A. B., … & Wester, K. (2017). Neurocognitive and psychosocial function in children with benign external hydrocephalus (BEH)—a long-term follow-up study. Child’s Nervous System, 33(1), 91-99.
- Parenti, I., Rabaneda, L. G., Schoen, H., & Novarino, G. (2020). Neurodevelopmental disorders: from genetics to functional pathways. Trends in Neurosciences, 43(8), 608-621.
- Riley, E. P., Infante, M. A., & Warren, K. R. (2011). Fetal alcohol spectrum disorders: an overview. Neuropsychology review, 21(2), 73.
- Serrano-Juárez, C. A., Prieto-Corona, D. M. B., & Yáñez-Téllez, M. G. (2018). Intervención Neuropsicológica en un caso de una niña con Síndrome de Williams. Cuadernos de Neuropsicología/Panamerican Journal of Neuropsychology, 12(2).
- Vacas, J., Antolí, A., Sánchez-Raya, A., & Cuadrado, F. (2020). Análisis de Perfiles Cognitivos en Población Clínica Infantil con Trastornos del Neurodesarrollo. Revista Iberoamericana de Diagnóstico y Evaluación-e Avaliação Psicológica, 1(54), 35-46.
- Vivanti, G., Hamner, T., & Lee, N. R. (2018). Neurodevelopmental disorders affecting sociability: recent research advances and future directions in autism spectrum disorder and Williams syndrome. Current neurology and neuroscience reports, 18(12), 1-9.
- Zielińska, D., Rajtar-Zembaty, A., & Starowicz-Filip, A. (2017). Cognitive disorders in children’s hydrocephalus. Neurologia i neurochirurgia polska, 51(3), 234-239.
- Zwick, G. P. (2017). Neuropsychological assessment in autism spectrum disorder and related conditions. Dialogues in clinical neuroscience, 19(4), 373.
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“This article has been translated. Link to the original article in Spanish:”
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