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PubMed This is a summary of 23 peer-reviewed journal articles Updated
Pediatrics

Understanding Symptoms and Development

At a Glance

Proximal 16p11.2 microdeletion syndrome is a genetic condition that affects every child differently. Common features include speech delays, childhood apraxia of speech, autism spectrum disorder, large head size (macrocephaly), and an increased risk of early-onset obesity. Regular screening is essential.

The 16p11.2 microdeletion is often described as a “spectrum” condition because it affects every child differently [1]. While one child may face significant challenges, another with the same genetic change might have only mild symptoms [2]. This section outlines the common features seen in this syndrome, but it is important to remember that your child may only have a few of these [3].

Neurodevelopmental Features

The most common symptoms of 16p11.2 microdeletion involve how the brain develops and processes information [4].

  • Speech and Language: Communication is a core area of focus. Many children experience delays in speaking, and a specific condition called Childhood Apraxia of Speech (CAS)—where the brain struggles to coordinate the muscle movements needed for speech—is very common [5][6]. These challenges often persist and require specialized motor-planning speech therapies (like PROMPT), rather than just standard language therapy [7].
  • Autism and Social Skills: There is a significantly higher chance of Autism Spectrum Disorder (ASD) compared to the general population [8]. Even without an ASD diagnosis, children may need support with social communication and making friends [9].
  • Learning and Behavior: Intellectual disability or global developmental delays are common, though the range of ability is wide [4]. ADHD (Attention-Deficit/Hyperactivity Disorder) and anxiety are also frequently reported psychiatric features [9][10].

Physical Characteristics

Doctors often look for specific “physical markers” that can be associated with this deletion.

  • Head Size (Macrocephaly): Many children have macrocephaly, which is the medical term for a head size that is larger than average for their age [11]. This is generally expected, but a pediatrician must still monitor the rate of head growth on a growth chart to ensure it follows a consistent curve and to rule out acute complications like hydrocephalus [12].
  • Growth and Weight: One of the most significant physical risks is early-onset obesity [13]. This often begins with an “abnormal satiety response”—meaning the child doesn’t feel “full” after eating—which can lead to rapid weight gain starting in early childhood or adolescence [14][15].
  • Muscle Tone (Hypotonia): Some infants and children have hypotonia, or low muscle tone, which can make them seem “floppy” and may delay milestones like sitting up, crawling, or walking [16].

Medical and Structural Risks

While less common than developmental features, some children may have structural issues that require medical monitoring.

  • Seizures and Epilepsy: There is an increased risk for seizures [17]. In some cases, these are related to a specific gene in the deleted region (PRRT2) that can also cause temporary movement disorders [18][19].
  • Heart and Kidney Health: Some children are born with structural differences, such as Ventricular Septal Defects (VSD) (a hole in the wall between the heart’s chambers) [20]. Renal (kidney) anomalies, known collectively as CAKUT, are also associated with the deletion [21].
  • Scoliosis: Curvature of the spine is more common in this group and may require monitoring as the child grows [22].

The Importance of Individualized Care

Because of variable expressivity—the fact that the same deletion causes different symptoms in different people—there is no “one-size-fits-all” roadmap [1]. Ongoing, longitudinal monitoring of your child’s development is essential to ensure they receive the right interventions at the right time [16][23]. Testing for heart and kidney issues is often recommended at the time of diagnosis to rule out silent structural problems [21][20].

Common questions in this guide

What are the common speech problems in 16p11.2 microdeletion syndrome?
Many children with this condition experience speech delays and Childhood Apraxia of Speech (CAS). CAS occurs when the brain struggles to coordinate the specific muscle movements needed for talking, which often requires specialized motor-planning speech therapies like PROMPT.
Will a child with a 16p11.2 microdeletion have autism?
Children with this genetic change have a significantly higher risk of developing Autism Spectrum Disorder. Even if a child does not receive a formal autism diagnosis, they may still need extra support with social communication and making friends.
Why is weight monitoring important for 16p11.2 deletion syndrome?
There is a significant risk for early-onset obesity in this condition. This is frequently caused by an abnormal satiety response, meaning the child does not feel full after eating, which can lead to rapid and unhealthy weight gain starting in early childhood.
Are there internal organ risks with a 16p11.2 microdeletion?
Yes, children with this deletion can have internal structural differences. Doctors often recommend a baseline kidney ultrasound and a cardiology checkup (like an EKG or echocardiogram) at the time of diagnosis to screen for silent heart or kidney issues.
Does a 16p11.2 microdeletion cause seizures?
Some children have an increased risk for seizures, which may sometimes be linked to the missing PRRT2 gene. Parents should watch for unusual movements, staring spells, or temporary movement disorders, and report them to a neurologist.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Has my child been formally evaluated for Childhood Apraxia of Speech (CAS), and how does that affect their therapy plan?
  2. 2.Should we schedule a baseline renal ultrasound or a cardiology checkup (EKG/Echo) to screen for silent structural issues?
  3. 3.At what age does the risk for rapid weight gain typically begin, and how can we monitor their satiety response?
  4. 4.What signs of 'staring spells' or unusual movements should I look for that might indicate seizures?
  5. 5.Given the risk for ADHD and anxiety, what behavioral signs should we watch for as they enter school?

Questions For You

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References

References (23)
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    Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.

    Han JY, Cho YG, Jo DS, Park J

    International journal of molecular sciences 2023; (25(1)) doi:10.3390/ijms25010253.

    PMID: 38203422
  2. 2

    Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

    Xie H, Liu F, Zhang Y, et al.

    Molecular genetics & genomic medicine 2020; (8(11)):e1485 doi:10.1002/mgg3.1485.

    PMID: 32870608
  3. 3

    Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series.

    Liu N, Li H, Li M, et al.

    Clinica chimica acta; international journal of clinical chemistry 2023; (538()):15-21 doi:10.1016/j.cca.2022.10.016.

    PMID: 36374846
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    Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.

    Leone R, Zuglian C, Brambilla R, Morella I

    Frontiers in pharmacology 2024; (15()):1407865 doi:10.3389/fphar.2024.1407865.

    PMID: 38948459
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    Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome.

    Jiménez-Romero MS, Fernández-Urquiza M, Benítez-Burraco A

    Journal of speech, language, and hearing research : JSLHR 2022; (65(12)):4724-4740 doi:10.1044/2022_JSLHR-22-00160.

    PMID: 36410413
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    Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

    Mei C, Fedorenko E, Amor DJ, et al.

    European journal of human genetics : EJHG 2018; (26(5)):676-686 doi:10.1038/s41431-018-0102-x.

    PMID: 29445122
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    Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.

    Demopoulos C, Kothare H, Mizuiri D, et al.

    Scientific reports 2018; (8(1)):1274 doi:10.1038/s41598-018-19751-x.

    PMID: 29352208
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    16p11.2 deletion syndrome.

    Chung WK, Roberts TP, Sherr EH, et al.

    Current opinion in genetics & development 2021; (68()):49-56 doi:10.1016/j.gde.2021.01.011.

    PMID: 33667823
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    Association of behavioural and social-communicative profiles in children with 16p11.2 copy number variants: a multi-site study.

    Verbesselt J, Walsh LK, Mitchel MW, et al.

    Journal of intellectual disability research : JIDR 2024; (68(8)):969-984 doi:10.1111/jir.13141.

    PMID: 38657658
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    Psychotic symptoms in 16p11.2 copy-number variant carriers.

    Jutla A, Turner JB, Green Snyder L, et al.

    Autism research : official journal of the International Society for Autism Research 2020; (13(2)):187-198 doi:10.1002/aur.2232.

    PMID: 31724820
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    16p11.2 deletion accelerates subpallial maturation and increases variability in human iPSC-derived ventral telencephalic organoids.

    Fetit R, Barbato MI, Theil T, et al.

    Development (Cambridge, England) 2023; (150(4)) doi:10.1242/dev.201227.

    PMID: 36826401
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    Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.

    Maillard AM, Romascano D, Villalón-Reina JE, et al.

    Translational psychiatry 2024; (14(1)):95 doi:10.1038/s41398-024-02810-5.

    PMID: 38355713
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    16p11.2 Locus modulates response to satiety before the onset of obesity.

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    International journal of obesity (2005) 2016; (40(5)):870-6 doi:10.1038/ijo.2015.247.

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    Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.

    Giannopoulou EZ, Zorn S, Schirmer M, et al.

    Hormone research in paediatrics 2022; (95(2)):137-148 doi:10.1159/000520402.

    PMID: 34689140
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    Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.

    Li L, Huang L, Lin S, et al.

    American journal of medical genetics. Part A 2017; (173(8)):2284-2288 doi:10.1002/ajmg.a.38284.

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    Developmental trajectories for young children with 16p11.2 copy number variation.

    Bernier R, Hudac CM, Chen Q, et al.

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017; (174(4)):367-380 doi:10.1002/ajmg.b.32525.

    PMID: 28349640
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    Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.

    Moufawad El Achkar C, Rosen A, Kessler SK, et al.

    Neurology. Genetics 2022; (8(5)):e200018 doi:10.1212/NXG.0000000000200018.

    PMID: 36531974
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    PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.

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    A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.

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    Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.

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    Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

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  22. 22

    Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.

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    Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.

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This guide on 16p11.2 microdeletion syndrome symptoms is for educational purposes only. Always consult your pediatrician or medical geneticist for specialized evaluation and care of your child.

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