Baylisascaris procyonis (raccoon roundworm), a parasite commonly found in raccoons (Procyon lotor), can cause severe disease in humans when it invades visceral organs or the ocular and central nervous systems. Without prompt treatment, B. procyonis infection can lead to serious complications and death. During September 2024, the Los Angeles County Department of Public Health was notified of two unrelated pediatric patients with neurologic signs and symptoms consistent with baylisascariasis, including behavioral change, lethargy, and gait instability. The first case occurred in an adolescent aged 14 years who had received a previous diagnosis of autism spectrum disorder and had a history of pica (i.e., ingestion of nonfood items); the second case occurred in a previously healthy child aged 15 months. Both were treated with albendazole and corticosteroids. The first patient returned to baseline neurologic status, but delays in diagnosis and treatment of the second patient resulted in severe neurologic sequelae. Epidemiologic investigations identified raccoon feces that had fallen from a rooftop latrine (i.e., a communal raccoon defecation site) as the possible source of exposure for the adolescent. No source of exposure was identified for the younger child. B. procyonis infection should be suspected and prompt treatment considered in patients with neurologic symptoms and cerebrospinal fluid or peripheral blood eosinophilia (>1,000 eosinophils/mL of blood), especially young children or persons with developmental disabilities or pica. In addition, the public should be aware of exposure prevention strategies, including preventing raccoon activity around properties, avoiding exposure to raccoon feces, and safely removing raccoon latrines. Phelan-McDermid syndrome-SHANK3 related (PMS-SHANK3 related) is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate-to-profound intellectual disability. Other features include relatively large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguish PMS-SHANK3 related from other autosomal chromosome disorders. Neurobehavioral characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. Some individuals experience regression / loss of skills, epilepsy, ataxic/abnormal gait, and sleep disturbance (difficulty falling asleep and staying asleep, hypersomnia, and parasomnias). Less commonly, affected individuals may have strabismus, vision problems (hyperopia or myopia), cardiac anomalies, renal anomalies, and lymphedema. Those who have PMS-SHANK3 related due to a ring chromosome 22 also have a high risk of developing features of NF2-related schwannomatosis (NF2). The diagnosis of PMS-SHANK3 related is established in a proband with suggestive findings and either (1) a <50-kb to >9-Mb heterozygous deletion at chromosome 22q13.3 with involvement of at least part of SHANK3; (2) a heterozygous pathogenic variant in SHANK3; OR (3) a chromosomal rearrangement with breakpoints disrupting SHANK3 identified by molecular genetic testing. Treatment of manifestations: Standard treatment for developmental delay / intellectual disability, epilepsy, hearing loss, recurrent ear infections, refractive error, strabismus, gastroesophageal reflux disease, autoimmune hepatitis / liver failure, renal anomalies, vesicoureteral reflux, hypothyroidism, pubertal abnormalities, bruxism, malocclusion, and cardiac issues. Those who experience poor feeding may benefit from feeding therapy or, if the feeding issues are persistent, placement of a gastrostomy tube. Immunomodulation therapy (such as intravenous immunoglobulins) may be considered in those with autoimmune encephalitis. Sleep hygiene, healthy habits, light therapy, and potential medical management may be considered to treat sleep disturbance. More complex vision issues, such as optic nerve hypoplasia or cortical visual impairment, may require input from an ophthalmic subspecialist. Use of pressure stockings and elevation of the foot of the bed may be helpful for those who have lymphedema; depending on the stage of the symptom, compression therapy, weight reduction, and stimulation mobility may also be indicated. In those who have a ring chromosome 22, see the GeneReview on NF2-related schwannomatosis for further information about treatment of manifestations. Surveillance: At each visit, measurement of growth parameters; evaluation of nutritional status and safety of oral intake; monitor for signs/symptoms of GERD; monitor for new manifestations, such as seizures, changes in tone, and developmental regression; monitor developmental progress and educational needs; evaluate for neurobehavioral issues, such as anxiety, ADHD, autism, aggression, and self-injury; monitor for signs/symptoms of sleep apnea and sleep disturbance. Annually, perform audiology evaluation and ophthalmology evaluation. At each visit in childhood and adolescence, monitor for signs and progression of puberty. At regular intervals, perform dental evaluation for evidence of tooth decay, malocclusion, and crowding. In those with poor growth or as clinically indicated, assess thyroid function. In those with a ring chromosome 22, perform annual neurologic examination by a provider with experience with NF2; brain MRI annually beginning at age 10-12 years until fourth decade of life; annual audiology evaluation, including BAER, to assess for the earliest symptoms of vestibular schwannomas; annual ophthalmology evaluation. Agents/circumstances to avoid: Exposure to high temperatures and extended periods in the sun due to reduced perspiration and tendency to overheat easily; exposure to excessive heat or cold, sharp objects, or clothes/shoes that may be too tight and cause skin lesions due to decreased perception of pain; radiotherapy for NF2-associated tumors in those with a ring chromosome 22. PMS-SHANK3 related is an autosomal dominant disorder most often caused by a de novo genetic alteration. Recurrence risk in family members depends on the genetic mechanism underlying PMS-SHANK3 in the proband and the genetic status of the parents of the proband. 22q13.3 deletion: Most probands have a de novo deletion; some probands have the deletion as the result of an unbalanced structural rearrangement that includes 22q13 (about half of these individuals have a parent who is a carrier of a balanced translocation) or a ring chromosome 22 (karyotype screening of the proband for a ring chromosome 22 must be done if a terminal 22q13.3 deletion is detected by CMA). Rarely, a proband inherited the genetic alteration from a heterozygous or mosaic parent. If a parent has (1) a non-mosaic 22q13.3 deletion, the risk to each sib of inheriting the deletion is 50%; (2) a mosaic 22q13.3 deletion, the risk to each sib is increased but impossible to quantify because the level of mosaicism in gonadal tissue is unknown; (3) a chromosomal rearrangement, the risk to sibs is increased and depends on the specific chromosomal rearrangement and the possibility of other variables. Intragenic SHANK3 pathogenic variant: Most probands have a de novo pathogenic variant; rarely, a proband inherited the pathogenic variant from a heterozygous or mosaic parent. If a parent of the proband is affected and/or known to have an intragenic SHANK3 pathogenic variant, the risk to the sibs is 50%. Once a 22q13.3 deletion involving SHANK3 or a SHANK3 intragenic pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible. Prenatal test results cannot reliably predict the phenotype.

Autism spectrum disorder (ASD) is characterized by triad of abnormalities in the form of developmental distortion with a lack of communicative abilities, behavioral and motor stereotypies. Etiology and pathogenesis of disease currently are unknown, but multifactorial causes of this pathology have been suggested. Although social disorders are considered a defining characteristic, motor disorders are a key feature of ASD. They are based on a postural control impairment, which is accompanied by delayed psychomotor development, reduced ability to motor synchronism in early childhood, modified arrangement of muscles, problems with balance and gait, postural instability, coordination deficiency, presence of motor dyspraxia and other abnormalities. To analyze current scientific data about motor disorders in ASD and their correction possibilities in children with this pathology. Analysis of publications, contained in PubMed and Google Scholar databases, which give consideration to motor disorders in children with ASD, was carried out. The search was done by keywords: motor disorders, children, autism spectrum disorder, causes, correction. Adaptive physical culture during individual training is one of the available and effective methods of physical rehabilitation in patients with ASD. Children with ASD need three levels of psychological support, each of which offers individual exercises, depending on the nature and severity of speech and cognitive impairment. Расстройства аутистического спектра (РАС) характеризуются триадой отклонений в виде: искажения процесса развития с дефицитом коммуникативных способностей, поведенческих и двигательных стереотипий. Этиология и патогенез заболевания на данный момент не известны, но предполагаются мультифакторные причины этой патологии. Хотя социальные расстройства считаются определяющим признаком, тем не менее двигательные нарушения являются ключевой особенностью РАС. В основе их лежит дефект постурального контроля, который сопровождается замедленным психомоторным развитием, снижением способности к моторной синхронности в раннем детстве, изменением модели набора мышц, нарушением равновесия и походки, постуральной нестабильностью, координационным дефицитом, наличием двигательной диспраксии и других отклонений. Анализ современных научных данных о двигательных нарушениях при РАС и возможности их коррекции у детей с этой патологией. Проведен анализ публикаций, содержащихся в базах PubMed и Google Scholar, в которых рассмотрены двигательные нарушения у детей с РАС. Поиск осуществляли по ключевым словам: двигательные нарушения, дети, расстройства аутистического спектра, причины, коррекция. Адаптивная физическая культура при индивидуальных занятиях является одним из доступных и эффективных методов физической реабилитации больных с РАС. В зависимости от характера и степени нарушений речевого и когнитивного развития дети с РАС нуждаются в трех уровнях психологической поддержки, для каждого из которых предложены индивидуальные физические упражнения. 7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior issues including anxiety disorders (especially social anxiety disorder [social phobia]), selective mutism, attention-deficit/hyperactivity disorder, oppositional disorders, physical aggression, and autism spectrum disorder; and intellectual disability in some individuals. Distinctive facial features are common. Cardiovascular disease includes dilatation of the ascending aorta. Approximately 30% of individuals have one or more congenital anomalies. The diagnosis of 7q11.23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical region. Treatment of manifestations: Address developmental delays through early intervention programs (including speech-language therapy, physical therapy, and occupational therapy), special education programs, and vocational training. Address childhood apraxia of speech with intensive speech-language therapy to maximize effective oral communication and prevent or limit later language impairment and/or reading disorder. Address emotional and behavioral disorders (aggression, social anxiety, selective mutism, autism spectrum disorder) with cognitive-behavioral therapy, applied behavior analysis behavior modification intervention, and psychotropic medications as needed. Standard treatment for seizures and congenital heart disease. Ventriculo-peritoneal shunt as needed for hydrocephalus. Aortic dilatation is treated with beta-blocker therapy and/or surgery as needed. Feeding therapy and gastrostomy tube placement may be required. Constipation should be aggressively managed. Human growth hormone replacement therapy for growth hormone deficiency. Treatment per nephrologist and/or urologist for genitourinary malformations. Standard treatments for vision and hearing issues and recurrent otitis. Casting and treatment per orthopedist for clubfeet. Social work support for families. Surveillance: Assessment of growth and nutrition at each visit. Annual assessment by occupational and physical therapists and speech-language pathologists until at least age six years. Annual assessment of intellectual ability and academic achievement. Head circumference at every visit in infancy or at least every three months. Assess for new-onset seizures or monitor those with seizures as clinically indicated. Behavior assessment annually. Annual monitoring of aortic diameter (including z scores in children). Annual monitoring for constipation, hearing and vision issues, and kyphoscoliosis. Assess need for additional genetic counseling and family support. 7q11.23 duplication syndrome is transmitted in an autosomal dominant manner. About 27% of individuals diagnosed with 7q11.23 duplication syndrome have an affected parent; about 73% of individuals have the disorder as the result of a de novo genetic alteration. If one of the parents has the 7q11.23 duplication identified in the proband, the risk to each sib of inheriting the duplication is 50%. It is not possible to reliably predict the phenotype in sibs who inherit a 7q11.23 duplication because manifestations of 7q11.23 duplication syndrome may vary in affected family members. If the 7q11.23 duplication identified in the proband cannot be detected in parental leukocyte DNA and neither parent has a balanced chromosome rearrangement, the recurrence risk to sibs is low but greater than that of the general population because of the possibility of parental germline mosaicism. Once a 7q11.23 duplication has been identified in an affected family member, prenatal and preimplantation genetic testing are possible; however, the manifestations of 7q11.23 duplication syndrome cannot be reliably predicted on the basis of prenatal test results or family history.